Gene Name	Entrez ID	Drug Name	Chembl ID	Interaction Types	Sources	publications
CFTR	1080	APIGENIN	CHEMBL28	activator	GuideToPharmacologyInteractions
CFTR	1080	CHEMBL1221576	CHEMBL1221576	channel blocker	GuideToPharmacologyInteractions
CFTR	1080	CROFELEMER	CHEMBL2108184	antagonist, inhibitor	TdgClinicalTrial, GuideToPharmacologyInteractions, ChemblInteractions, DrugBank	19808995
CFTR	1080	CHEMBL1230989	CHEMBL1230989		DrugBank	10592235
CFTR	1080	CHEMBL1372588	CHEMBL1372588	activator	GuideToPharmacologyInteractions
CFTR	1080	NIMODIPINE	CHEMBL1428	activator	GuideToPharmacologyInteractions
CFTR	1080	LUMACAFTOR	CHEMBL2103870	modulator	TdgClinicalTrial, ChemblInteractions, DrugBank, FDA	26416827
CFTR	1080	QBW251	CHEMBL3545292	activator	ChemblInteractions
CFTR	1080	GLYBURIDE	CHEMBL472	antagonist, channel blocker	GuideToPharmacologyInteractions, DrugBank	12391048, 12202948, 14729151, 12407077, 15365090
CFTR	1080	CAPSAICIN	CHEMBL294199	activator	GuideToPharmacologyInteractions
CFTR	1080	FELODIPINE	CHEMBL1480	activator	GuideToPharmacologyInteractions
CFTR	1080	GENISTEIN	CHEMBL44	activator	GuideToPharmacologyInteractions, NCI	12124395
CFTR	1080	CHEMBL461939	CHEMBL461939	channel blocker	GuideToPharmacologyInteractions
CFTR	1080	DEXFOSFOSERINE	CHEMBL284377		DrugBank	10592235
CFTR	1080	CHEMBL1949980	CHEMBL1949980	activator	GuideToPharmacologyInteractions
CFTR	1080	CHEMBL177991	CHEMBL177991	activator	GuideToPharmacologyInteractions
CFTR	1080	TEZACAFTOR	CHEMBL3544914		ChemblInteractions
CFTR	1080	RETINOL	CHEMBL986		NCI	17988958
CFTR	1080	BUMETANIDE	CHEMBL1072	antagonist	DrugBank	9886939
CFTR	1080	IVACAFTOR	CHEMBL2010601	potentiator, activator	PharmGKB, TdgClinicalTrial, GuideToPharmacologyInteractions, ChemblInteractions, DrugBank, FDA	22293084

Gene Name	Variant	Alleles	Chemical	Phenotype Category	Significance	Notes	Sentence	Publications	Annotation ID
CFTR	rs74503330	A	ivacaftor	efficacy	yes	as compared to baseline. In vitro assays using transfected Fisher Rat Thyroid cells expressing CFTR. Before treatment, cells were activated by exposure to PKA and ATP before ivacaftor treatment. Cells expressing S1251N-CFTR (rs74503330 allele A) responded to ivacaftor treatment as measured by a significantly enhanced channel open probability and increased chloride transport. Single channel current amplitude at 80mV was not significantly enhanced.	Allele A is associated with increased response to ivacaftor.	22293084	1183960706
CFTR	rs78655421	AG	ivacaftor	efficacy	not stated	Case report. A 56-year-old woman with severe cystic fibrosis (F508del/R117H) was started on ivacaftor. At 6 months, FEV1 remained stable, weight increased by 5.8kg, sweat chloride level fell by 28 mmol/L. She had one course of IV antibiotics in contrast to four courses in the previous 6 month period. She discontinued her home oxygen for routine activities after 3 weeks of treatment. Quality of life improved, there was a reduction in mucus plugging and bronchial wall thickening in the functional right lung.	Genotype AG is associated with response to ivacaftor in women with Cystic Fibrosis.	26324139	1447984881
CFTR	rs113993960	del	ivacaftor	efficacy	yes	In vitro assays that show that ivacaftor potentiates CFTR with the F508del mutation (rs113993960 del) *in cells that have been temperature corrected to enhance expression of F508del CFTR at the plasma membrane* - see details described in study parameters.	Allele del is associated with increased response to ivacaftor.	19846789	981755710
CFTR	rs113993960	del	ivacaftor	efficacy	not stated	in vitro assays using cells expressing a F508del-KXK-CFTR: CFTR with the F508del mutation (rs113993960 del) and mutations of arginines at positions 553 and 555 (these increased protein processing and function). Cells were activated (forskolin, IBMX) then treated with ivacator and a corrector compound VRT-325.	Allele del is associated with increased response to ivacaftor.	21602569	981755725
CFTR	rs113993960	del	ivacaftor	efficacy	not stated	In vitro studies using proteoliposomes containing CFTR, or CFTR with the G551D mutation (rs75527207 allele A), or CFTR with the F508del mutation (rs113993960 allele del). Ivacaftor in the presence of ATP potentiated channel activity of CFTR-F508del.	Allele del is associated with increased response to ivacaftor.	22942289	981755766
CFTR	rs113993960	del	ivacaftor	efficacy	no	In vitro assays using transfected Fisher Rat Thyroid cells expressing CFTR. Cells expressing F508del-CFTR (rs113993960 del) had a minimal response to ivacaftor treatment compared to wild-type (rs113993960 CTT) or other CFTR mutations investigated.	Allele del is associated with decreased response to ivacaftor.	22293084	981755776
CFTR	rs113993960	del	ivacaftor	efficacy	yes	Cell based assays looking at monolayers to report that F508del cells exhibit increased mucociliary transport and decreased mucus effective viscosity when ivacaftor is added to the full regimen with C18. Result not seen with ivacaftor alone or with c18 alone.	Allele del is associated with increased response to ivacaftor in people with Cystic Fibrosis.	26968770	1447981017
CFTR	rs75527207	A	ivacaftor	efficacy	yes	In vitro assays that show ivacaftor potentiates CFTR with the G551D mutation (rs75527207 allele A) - see details described in study parameters.	Allele A is associated with increased response to ivacaftor.	19846789	981755699
CFTR	rs75527207	A	ivacaftor	efficacy	not stated	In vitro studies using proteoliposomes containing CFTR, or CFTR with the G551D mutation (rs75527207 allele A), or CFTR with the F508del mutation (rs113993960 allele del). Ivacaftor in the presence of ATP potentiated channel activity of CFTR-G551D.	Allele A is associated with increased response to ivacaftor.	22942289	981755746
CFTR	rs267606723	A	ivacaftor	efficacy	yes	as compared to baseline. In vitro assays using transfected Fisher Rat Thyroid cells expressing CFTR. Before treatment, cells were activated by exposure to PKA and ATP before ivacaftor treatment. Cells expressing G1244E-CFTR (rs267606723 allele A) responded to ivacaftor treatment as measured by a significantly enhanced channel open probability and increased chloride transport. Single channel current amplitude at 80mV was not significantly enhanced.	Allele A is associated with increased response to ivacaftor.	22293084	1183960702
CFTR	rs75527207	A	ivacaftor	efficacy	yes	as compared to baseline. In vitro assays using transfected Fisher Rat Thyroid cells expressing CFTR. Before treatment, cells were activated by exposure to PKA and ATP before ivacaftor treatment. In vitro assays using transfected Fisher Rat Thyroid cells expressing CFTR. Cells expressing G551D-CFTR (rs75527207 allele A) responded to ivacaftor treatment with a significantly enhanced channel open probability and increased chloride transport. Single channel current amplitude at 80mV was not significantly enhanced.	Allele A is associated with increased response to ivacaftor.	22293084	981755787
CFTR	rs121908757	C	ivacaftor	efficacy	yes	as compared to baseline. In vitro assays using transfected Fisher Rat Thyroid cells expressing CFTR. Before treatment, cells were activated by exposure to PKA and ATP before ivacaftor treatment. Cells expressing S549R-CFTR (rs121908757 allele C or rs121909005  allele G) responded to ivacaftor treatment as measured by a significantly enhanced channel open probability, increased chloride transport and increased single channel current amplitude at 80mV.	Allele C is associated with increased response to ivacaftor.	22293084	1183960690
CFTR	rs193922525	A	ivacaftor	efficacy	yes	as compared to baseline. In vitro assays using transfected Fisher Rat Thyroid cells expressing CFTR. Before treatment, cells were activated by exposure to PKA and ATP before ivacaftor treatment. Cells expressing G1349D-CFTR (rs193922525 allele A) responded to ivacaftor treatment as measured by a significantly enhanced channel open probability and increased chloride transport. Single channel current amplitude at 80mV was not significantly enhanced.	Allele A is associated with increased response to ivacaftor.	22293084	1183960714
CFTR	rs121909005	G	ivacaftor	efficacy	yes	as compared to baseline. In vitro assays using transfected Fisher Rat Thyroid cells expressing CFTR. Before treatment, cells were activated by exposure to PKA and ATP before ivacaftor treatment. Cells expressing S549R-CFTR (rs121908757 allele C or rs121909005  allele G) responded to ivacaftor treatment as measured by a significantly enhanced channel open probability, increased chloride transport and increased single channel current amplitude at 80mV.	Allele G is associated with increased response to ivacaftor.	22293084	1183960694
CFTR	rs121909041	C	ivacaftor	efficacy	yes	as compared to baseline. In vitro assays using transfected Fisher Rat Thyroid cells expressing CFTR. Before treatment, cells were activated by exposure to PKA and ATP before ivacaftor treatment. Cells expressing S1255P-CFTR (rs121909041 allele C) responded to ivacaftor treatment as measured by a significantly enhanced channel open probability and increased chloride transport. Single channel current amplitude at 80mV was not significantly enhanced.	Allele C is associated with increased response to ivacaftor.	22293084	1183960710
CFTR	rs121908755	A	ivacaftor	efficacy	yes	as compared to baseline. In vitro assays using transfected Fisher Rat Thyroid cells expressing CFTR. Before treatment, cells were activated by exposure to PKA and ATP before ivacaftor treatment. Cells expressing S549N-CFTR (rs121908755 allele A) responded to ivacaftor treatment as measured by a significantly enhanced channel open probability and increased chloride transport. Single channel current amplitude at 80mV was not significantly enhanced.	Allele A is associated with increased response to ivacaftor.	22293084	1183960686
CFTR	rs121909013	A	ivacaftor	efficacy	yes	as compared to baseline. In vitro assays using transfected Fisher Rat Thyroid cells expressing CFTR. Before treatment, cells were activated by exposure to PKA and ATP before ivacaftor treatment. Cells expressing G551S-CFTR (rs121909013 allele A) responded to ivacaftor treatment as measured by a significantly enhanced channel open probability and increased chloride transport. Single channel current amplitude at 80mV was not significantly enhanced.	Allele A is associated with increased response to ivacaftor.	22293084	1183960698
CFTR	rs113993959	T	ataluren	efficacy	yes	This nonsense mutation was considered together with other nonsense mutations in CFTR (rs1139959 G542X, rs77010898 W1282X, and rs75039782 3849+10kB). Efficacy measured as increased chloride transport and increased CFTR expression on epithelial cell surface. Treatment in two 28 day cycles: 14 days on and 14 days off treatment. Ataluren taken 3x/day with randomization for low and high doses. No changes were seen in pulmonary function.	Allele T is associated with response to ataluren in children with Cystic Fibrosis as compared to allele G.	20622033	1447952758
CFTR	rs77010898	A	ataluren	efficacy	yes	This nonsense mutation was considered together with other nonsense mutations in CFTR (rs1139959 G542X, rs77010898 W1282X, and rs75039782 3849+10kB). Efficacy measured as increased chloride transport and increased CFTR expression on epithelial cell surface. Treatment in two 28 day cycles: 14 days on and 14 days off treatment. Ataluren taken 3x/day with randomization for low and high doses. No changes were seen in pulmonary function.	Allele A is associated with response to ataluren in children with Cystic Fibrosis as compared to allele G.	20622033	1447952765
CFTR	rs121908757	C	ivacaftor	efficacy	not stated	Case report of a pediatric cystic fibrosis patient (genotype S549R/1717-1G>A) being treated with ivacaftor. Improvements in body weight, cough frequency, sputum production, physical performance, sweat chloride level and FEV1 were reported following six weeks of treatment. Paper does not state if rs121908757 or rs121909005 is the causative variant of S549R.	Allele C is associated with response to ivacaftor in children with Cystic Fibrosis.	26474553	1449192458
CFTR	rs121909005	G	ivacaftor	efficacy	not stated	Case report of a pediatric cystic fibrosis patient (genotype S549R/1717-1G>A) being treated with ivacaftor. Improvements in body weight, cough frequency, sputum production, physical performance, sweat chloride level and FEV1 were reported following six weeks of treatment. Paper does not state if rs121908757 or rs121909005 is the causative variant of S549R.	Allele G is associated with response to ivacaftor in children with Cystic Fibrosis.	26474553	1449192465
CFTR	rs121908755	A	ivacaftor	efficacy	not stated	S549N allele.	Allele A is associated with response to ivacaftor in children with Cystic Fibrosis.	28371569	1449192774
CFTR	rs75527207	A	ivacaftor	efficacy	yes		Allele A is associated with response to ivacaftor in children with Cystic Fibrosis.	23628510	1450043422
CFTR	rs75527207	A	ivacaftor	efficacy	yes	G551D allele. Analysis of CFQ-R scores from participants in the STRIVE trial. Scores for eating problems, health perceptions, physical functioning, respiratory symptoms, social functioning, treatment burden and vitality showed significant improvements following ivacaftor treatment.	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.	26135562	1449192481
CFTR	rs75527207	A	ivacaftor	efficacy	not stated	Study was an expanded access program targeted at patients with severe lung disease and was not powered to determine efficacy. Majority of patients reported an improvement in FEV following 24 weeks of treatment.	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.	25682022	1449191908
CFTR	rs75527207	A	ivacaftor	efficacy	yes	G551D allele. FEV1, Alfred wellness score, exercise time, CFQ-R score and sweat chloride levels showed a significant improvement following ivacaftor treatment as compared to placebo while other outcomes (VO2, ventilation, cardiac response nd recovery following exercise) did not.	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.	28611235	1449192439
CFTR	rs75527207	A	ivacaftor	efficacy	yes	Post hoc analysis of clinical outcomes of the STRIVE and ENVISION trials. Participants were split into tertiles based on FEV1 score and outcomes in change in baseline FEV1, body weight, CFQ-R score and sweat chloride levels as well as number of days of pulmonary exacerbation were assessed. All outcomes were significantly improved in the upper tertile, all outcomes apart from number of days of pulmonary exacerbation were significantly improved in the middle tertile and absolute change in FEV1, body weight and sweat chloride levels were significantly improved in the lower tertile.	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.	25755212	1449192576
CFTR	rs75527207	A	ivacaftor	efficacy	yes	Patients with at least one G551D-CFTR allele were recruited and treated with ivacaftor for one year. Mean weight and BMI improved at 6 months from baseline, but only mean weight was increased again at 12 months. Mean percentage FVC, FEV1 and FEF25-75% returned to baseline levels by 12 months of treatment.	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.	25049054	1184512440
CFTR	rs75527207	AA + AG	ivacaftor	efficacy	not stated	A clinical trial that selected patients with the G551D CFTR mutation (rs75527207 genotype AA or AG). Patients without this mutation were excluded. One patient included in the placebo group was homozygous for F508del (rs113993960 genotype del/del).	Genotypes AA + AG are associated with response to ivacaftor in people with Cystic Fibrosis.	22047557	981755678
CFTR	rs75527207	A	ivacaftor	efficacy	not stated	A case report of lung function improvements 6 months after treatment with ivacaftor in a male patient with severe lung disease - he had the CFTR G511D (rsrs75527207 allele A)/deltaF508 genotype (rs113993960 del CTT) and so could be given ivacaftor.	Allele A is associated with response to ivacaftor in men with Cystic Fibrosis.	23313410	982006840
CFTR	rs75527207	AA + AG	ivacaftor	efficacy	yes	The authors wanted to assess the efficacy of ivacaftor in patients with cystic fibrosis who have normal spirometry. The authors assessed lung function improvement in patients using lung clearance index (LCI) as well as forced expiratory volume in 1 second (FEV1), and only included patients with < 90% FEV1 values. The primary outcome was change in LCI from baseline. This was a phase 2, multi-centre, placebo-controlled, 2x2 crossover study. One group, sequence 1, took placebo first, followed by 28 day washout, then took ivacaftor 150 mg 2x daily for 4 weeks. The second group had the sequence of treatment reversed.	Genotypes AA + AG are associated with response to ivacaftor in people with Cystic Fibrosis.	24461666	1446903789
CFTR	rs75527207	AA + AG	ivacaftor	efficacy	not stated	Clinical trials were carried out to test efficacy of ivacaftor selecting only patients with the CFTR G551D mutation on at least one allele (genotype AA or AG).	Genotypes AA + AG are associated with response to ivacaftor in people with Cystic Fibrosis.	21083385	981755665
CFTR	rs75527207	A	ivacaftor	efficacy	yes	G551D allele. Statistically significant increases in FEV1, weight and BMI and statistically significant decreases in sweat chloride level, the number of days of antibiotic treatment and in the use of some maintenance treatments. No differences in bone density, pancreatic insufficiency and cystic fibrosis related diabetes were observed.	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.	28711222	1449192055
CFTR	rs267606723	A	ivacaftor	efficacy	yes	G1244E allele. KONNECTION study evaluated safety and efficacy of ivacaftor in CF patients with a non-G551D gating mutation. Efficacy was measured by changes in FEV, sweat chloride, BMI and CFQ-R score. P value is given for improvement of all genotypes across all efficacy measurements in 8 weeks of treatment.	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.	25266159	1449191776
CFTR	rs121909041	C	ivacaftor	efficacy	yes	S1255P allele. KONNECTION study evaluated safety and efficacy of ivacaftor in CF patients with a non-G551D gating mutation. Efficacy was measured by changes in FEV, sweat chloride, BMI and CFQ-R score. P value is given for improvement of all genotypes across all efficacy measurements in 8 weeks of treatment.	Allele C is associated with response to ivacaftor in people with Cystic Fibrosis.	25266159	1449191825
CFTR	rs80282562	A	ivacaftor	efficacy	yes	G178R allele. KONNECTION study evaluated safety and efficacy of ivacaftor in CF patients with a non-G551D gating mutation. Efficacy was measured by changes in FEV, sweat chloride, BMI and CFQ-R score. P value is given for improvement of all genotypes across all efficacy measurements in 8 weeks of treatment.	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.	25266159	1449191790
CFTR	rs121908755	A	ivacaftor	efficacy	not stated	A girl with rapidly advancing lung disease was treated with ivacaftor and after 6 weeks of treatment showed clinical improvement (including normalization of sweat chloride, cough was cleared within 3 weeks, ability to engage in school exercise classes by 4 weeks, weight gain, and significantly improved lung function). She had the gating variant CFTR S549N, as well as the class I CFTR variant 1811+1.6kbA>G.	Allele A is associated with response to ivacaftor in children with Cystic Fibrosis.	24081349	1183960311
CFTR	rs121908757	C	ivacaftor	efficacy	yes	Patients carried at least one S549R allele (rs121908757 C allele or rs121909005 G allele) and received ivacaftor treatment for one year. Sweat chloride levels, lung function, BMI and days of antibiotic treatment were measured to determine response to ivacaftor.	Allele C is associated with response to ivacaftor in people with Cystic Fibrosis.	28947035	1449190712
CFTR	rs113993960	del/del	ivacaftor	efficacy	yes	Patients 12 and older with cystic fibrosis and homozygous for the Phe508del CFTR mutation were randomized to tezacaftor and ivacaftor or placebo for 24 weeks at 91 sites in the US, Canada, and Europe. The primary objective was to evaluate the efficacy of tezacaftor–ivacaftor vs. placebo in improving measures of lung capacity (FEV). Secondary objectives include other measures of safety, quality of life (Cystic Fibrosis Questionnaire–Revised (CFQ-R) scores, and changes in sweat-chloride concentration between patients treated with tezacaftor–ivacaftor or placebo.	Genotype del/del is associated with increased response to ivacaftor and tezacaftor in people with Cystic Fibrosis.	29099344	1449154644
CFTR	rs113993960	CTT/del	ivacaftor	efficacy	yes	This trial was designed to evaluate the efficacy and safety of tezacaftor with ivacaftor, ivacaftor monotherapy, or placebo. It is a phase 3, randomized, multicenter, double-blind, placebo-controlled, two-period, three-intervention crossover trial (NCT02392234). Patients were 12 years of age or older with cystic fibrosis (CF) and were heterozygous for the Phe508del CFTR mutation and a second allele with a CFTR mutation with residual function as assessed by in vitro studies. Each patient received two of the three regimens (tezacaftor with ivacaftor, ivacaftor monotherapy, or placebo).	Genotype CTT/del is associated with increased response to ivacaftor and tezacaftor in people with Cystic Fibrosis.	29099333	1449154699
CFTR	rs113993960	del/del	ivacaftor	efficacy	yes	F508del allele. Study has multiple phases - a tezacaftor dose escalation phase and an efficacy testing phase using 100mg tezacaftor and 150mg ivacaftor. Significant improvements in sweat chloride level, ppFEV1 and CFQ-R scores were observed in the dose escalation phase however only sweat chloride levels showed a significant improvement in the efficacy testing phase.	Genotype del/del is associated with response to ivacaftor and tezacaftor in people with Cystic Fibrosis.	28930490	1449192662
CFTR	rs113993960	del/del	ivacaftor	efficacy	yes	F508del allele.	Genotype del/del is associated with response to ivacaftor and lumacaftor in people with Cystic Fibrosis.	29327948	1449192689
CFTR	rs75527207	A	ivacaftor	efficacy	yes	Patients aged 6-11 at time of screening who had at least one allele with the G551D mutation (allele A at position rs75527207) were recruited for this trial. Ivacaftor is only indicated in CF patients with this mutation. Significant improvements in lung function were seen in the ivacaftor treatment group compared to placebo.	Allele A is associated with response to ivacaftor in children with Cystic Fibrosis.	23590265	982009991
CFTR	rs193922525	A	ivacaftor	efficacy	yes	G1349D allele. KONNECTION study evaluated safety and efficacy of ivacaftor in CF patients with a non-G551D gating mutation. Efficacy was measured by changes in FEV, sweat chloride, BMI and CFQ-R score. P value is given for improvement of all genotypes across all efficacy measurements in 8 weeks of treatment.	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.	25266159	1449191784
CFTR	rs80034486	G	ivacaftor	efficacy	not stated	N1303K allele. Rectal organoids carrying the N1303K allele did not show a significant response to treatment with either ivacaftor and/or lumacaftor as measured by FIS and SLA assay.	Allele G is not associated with response to ivacaftor or lumacaftor.	27334259	1449192342
CFTR	rs75527207	A	ivacaftor	efficacy	yes	Response measured by changes in sweat chloride levels, FEV1 and BMI.	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.	26568242	1449192615
CFTR	rs75527207	A	ivacaftor	efficacy	yes	A retrospective study of patients in Germany with severe Cystic Fibrosis (FEV1 <40%predicted) with the G551D mutation who were treated with ivacaftor. On average, FEV1and body weight increased signficantly, though response was variable in this patient group and several patients discontinued ivacaftor for different complications.	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.	23757359	1043737597
CFTR	rs75527207	AA	ivacaftor	efficacy	not stated	Case report of a female homozygous for the G551D CFTR mutation (genotype AA) in which ivacaftor was efficacious: increased absolute change in percent of predicted FEV1, increased weight and walk distance and decreased sweat chloride levels over a 12 month course with no sign of plateau to date.	Genotype AA is associated with response to ivacaftor in women with Cystic Fibrosis.	24066763	1183629335
CFTR	rs80282562	A	ivacaftor	efficacy	yes	as compared to baseline. In vitro assays using transfected Fisher Rat Thyroid cells expressing CFTR. Before treatment, cells were activated by exposure to PKA and ATP before ivacaftor treatment. Cells expressing G178R-CFTR (rs80282562 allele A) responded to ivacaftor treatment as measured by a significantly enhanced channel open probability and increased chloride transport. Single channel current amplitude at 80mV was not significantly enhanced.	Allele A is associated with increased response to ivacaftor.	22293084	1183960682
CFTR	rs75527207	AA + AG	ivacaftor	efficacy	yes	Measured in adult patients, with changes in lung volume, sweat chloride, distensibility, wall thickness, expiratory lumen area, and inspiratory lumen area measured before starting ivacaftor and 48 hour after starting ivacaftor.	Genotypes AA + AG are associated with increased response to ivacaftor in people with Cystic Fibrosis as compared to genotype GG.	27158673	1448099051
CFTR	rs113993960	del/del	ivacaftor / lumacaftor	efficacy	yes	Patients were assigned to either 1) placebo 2) lumacaftor 200 mg/day mono therapy (day 1-14) plus 150 mg/12 hr of ivacaftor (day 14-21) 3) lumacaftor 200 mg/day mono therapy (day 1-14) plus 250 mg/12 hr of ivacaftor (day 14-21) . Only patients in the 250 mg ivacaftor group showed improvement in sweat chloride concentrations from baseline [-12.6 mol/L (95% CI -17.2, -7.9), p<0.001], and were significantly different when compared to placebo. Neither group showed any improvement in forced expiratory volume in 1 second (FEV1) % as compared to placebo.	Genotype del/del is associated with response to ivacaftor / lumacaftor in people with Cystic Fibrosis.	24973281	1446903870
CFTR	rs113993960	CTT/del	ivacaftor / lumacaftor	efficacy	no	Patients were assigned to either 1) placebo OR lumacaftor 600 mg/day monotherapy (day 1-28) then 250 mg/12 hr of ivacaftor combination therapy (day 28-56). Combination therapy did not provide significant improvements in sweat chloride concentrations or FEV1 in the treatment group versus placebo.	Genotype CTT/del is not associated with response to ivacaftor / lumacaftor in people with Cystic Fibrosis.	24973281	1446903975
CFTR	rs113993959	T	ataluren	efficacy	yes	Phase II prospective trial of patients with at least one nonsense mutation. Participants received 3 doses of 16 mg/kg per day for 14 days, followed by 14 days no treatment, and an additional 14 days of treatment. Measured change in chloride transport.	Allele T is associated with response to ataluren in people with Cystic Fibrosis as compared to allele G.	18722008	1447952428
CFTR	rs113993959	T	ataluren	efficacy	yes	This nonsense mutation assessed in conjunction with the rs77010898 W128X nonsense mutation to show improved chloride transport.	Allele T is associated with response to ataluren in people with Cystic Fibrosis as compared to allele G.	21233271	1447952104
CFTR	rs113993959	T	ataluren	efficacy	no	Outcomes assessed for all nonsense mutations together (W1282X, G542X, R1162X, and R553X). Case-control study with placebo. Endpoint measured was change in Forced Expiratory Volume in 1 second. A difference was seen in the subset of patients on tobramycin.	Allele T is not associated with response to ataluren in people with Cystic Fibrosis as compared to allele G.	24836205	1447952408
CFTR	rs74597325	T	ataluren	efficacy	no	Outcomes assessed for all nonsense mutations together (W1282X, G542X, R1162X, and R553X). Case-control study with placebo. Endpoint measured was change in Forced Expiratory Volume in 1 second. A difference was seen in the subset of patients on tobramycin.	Allele T is not associated with response to ataluren in people with Cystic Fibrosis as compared to allele C.	24836205	1447952414
CFTR	rs77010898	AA	ivacaftor	efficacy	yes	This study was a cell study and a case report of a woman with AA genotype. FEV1 did not improve, but ivacaftor was associated with better weight gain and fewer months with exacerbations.	Genotype AA is associated with increased response to ivacaftor in people with Cystic Fibrosis as compared to genotype GG.	27707539	1448265990
CFTR	rs77010898	AA + AG	curcumin	efficacy	yes	This is a cell based study with measuring channel activity in polarized FRT epithelial monolayers.	Genotypes AA + AG are associated with response to curcumin and ivacaftor in people with Cystic Fibrosis as compared to genotype GG.	27007499	1447980773
CFTR	rs78655421	A	ivacaftor	efficacy	not stated	This is a case report of one individual, with severe cystic fibrosis and the genotype F508del/R117H/IVS8-5T, who has improved symptoms after ivacaftor therapy.	Allele A is associated with response to ivacaftor in Cystic Fibrosis as compared to allele G.	25698453	1447964156
CFTR	rs78655421	AA + AG	ivacaftor	efficacy	yes	Extension study of KONDUCT. Patients underwent a washout period then an interim analysis at 12 weeks. Placebo-to-ivacaftor and ivacaftor-to-ivacaftor groups showed % predicted FEV1 improvement (absolute change from post-washout baseline at week 12: placebo-to-ivacaftor 5.0 percentage points (p=0.0005), ivacaftor-to-ivacaftor 6.0 percentage points (p=0.006)). There was also improvement in CFQ-R respiratory domain.	Genotypes AA + AG is associated with response to ivacaftor in people with Cystic Fibrosis.	26070913	1447986312
CFTR	rs75527207	AA + AG	ivacaftor	efficacy	yes	The outcome of change in sweat chloride was correlated with change in FEV1 in patients with cystic fibrosis and found to have improved results for both.	Genotypes AA + AG is associated with increased response to ivacaftor in people with Cystic Fibrosis as compared to genotype GG.	27773592	1448423752
CFTR	rs113993960	del/del	cavosonstat	efficacy	no	Efficacy measured as change from baseline of percent-predicted FEV1 (ppFEV1) at the end of the 28-day treatment period (p > 0.05)	Genotype del/del is not associated with response to cavosonstat in people with Cystic Fibrosis as compared to genotypes CTT/CTT + CTT/del.	28209466	1448604066
CFTR	rs77932196	A	ivacaftor	efficacy	yes	Investigation of ivacaftor treatment in patients with CFTR variants conferring residual CFTR function, comparing patients with ivacaftor treatment to those without. Genotypes of the patients receiving ivacaftor were R347P/L1065P, 2789+5G/R1066C, S912X/D579G, S912X/D579G, del F508/R352Q, G542X/D1152H, and W1282W/D1152H. The outcomes measured were FEV1 %predicted, increase in BMI, CFQ-R, and number of exacerbations.	Allele A is associated with increased response to ivacaftor in people with Cystic Fibrosis as compared to allele G.	27812499	1448423827
CFTR	rs121909011	C	ivacaftor	efficacy	yes	Investigation of ivacaftor treatment in patients with CFTR variants conferring residual CFTR function, comparing patients with ivacaftor treatment to those without. Genotypes of the patients receiving ivacaftor were R347P/L1065P, 2789+5G/R1066C, S912X/D579G, S912X/D579G, del F508/R352Q, G542X/D1152H, and W1282W/D1152H. The outcomes measured were FEV1 %predicted, increase in BMI, CFQ-R, and number of exacerbations.	Allele C is associated with increased response to ivacaftor in people with Cystic Fibrosis as compared to allele T.	27812499	1448423843
CFTR	rs74503330	A	ivacaftor	efficacy	yes	S1251 allele. KONNECTION study evaluated safety and efficacy of ivacaftor in CF patients with a non-G551D gating mutation. Efficacy was measured by changes in FEV, sweat chloride, BMI and CFQ-R score. P value is given for improvement of all genotypes across all efficacy measurements in 8 weeks of treatment.	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.	25266159	1449191818
CFTR	rs121908755	A	ivacaftor	efficacy	yes	S549N allele. KONNECTION study evaluated safety and efficacy of ivacaftor in CF patients with a non-G551D gating mutation. Efficacy was measured by changes in FEV, sweat chloride, BMI and CFQ-R score. P value is given for improvement of all genotypes across all efficacy measurements in 8 weeks of treatment.	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.	25266159	1449191831
CFTR	rs121909013	A	ivacaftor	efficacy	yes	G551S allele. KONNECTION study evaluated safety and efficacy of ivacaftor in CF patients with a non-G551D gating mutation. Efficacy was measured by changes in FEV, sweat chloride, BMI and CFQ-R score. P value is given for improvement of all genotypes across all efficacy measurements in 8 weeks of treatment. Only one patient with this variant completed 8 weeks of treatment.	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.	25266159	1449191796
CFTR	rs121909005	G	ivacaftor	efficacy	yes	S549R allele. It is unclear whether rs121908757 or rs121909005 is the causative variant. KONNECTION study evaluated safety and efficacy of ivacaftor in CF patients with a non-G551D gating mutation. Efficacy was measured by changes in FEV, sweat chloride, BMI and CFQ-R score. P value is given for improvement of all genotypes across all efficacy measurements in 8 weeks of treatment.	Allele G is associated with response to ivacaftor in people with Cystic Fibrosis.	25266159	1449191843
CFTR	rs113993960	CTT/del	ivacaftor	efficacy	yes	F508del allele. All study participants had the F508del allele on one allele and a second that was predicted to not respond to ivacaftor/lumacaftor treatment. Two out of five outcomes showed a significant improvement following 56 days of ivacaftor/lumacaftor treatment.	Genotype CTT/del is associated with response to ivacaftor and lumacaftor in people with Cystic Fibrosis.	27898234	1449192508
CFTR	rs80034486	G	lumacaftor	efficacy	no	N1303K allele. Study carried out using primary bronchial epithelial cells from donors with cystic fibrosis. Secretion of chloride ions across the cell membrane was measured to determine CFTR activity. Cells had the CFTR genotype N1303K/G542X. As the G542X allele does not generate a protein molecule, these cells were used to assess the effects of lumacaftor on the N1303K allele only.	Allele G is not associated with response to lumacaftor.	26137539	1449192136
CFTR	rs121909047	AA	lumacaftor	efficacy	yes	A561E allele. Study carried out using primary bronchial epithelial cells from donors with cystic fibrosis. Secretion of chloride ions across the cell membrane was measured to determine CFTR activity.	Genotype AA is associated with response to lumacaftor.	26137539	1449192131
CFTR	rs77932196	G	ivacaftor	efficacy	not stated	R347P allele. Rectal organoids carrying the F508del/R347P genotype did not show a significant response to treatment with either ivacaftor and/or lumacaftor as compared to organoids carrying the F508del allele and a Class I mutation as measured by FIS and SLA assay. A patient with the F508del/R347P genotype showed a weak response to ivacaftor treatment.	Allele G is not associated with response to ivacaftor or lumacaftor in people with Cystic Fibrosis.	27334259	1449192347
CFTR	rs74551128	A	ivacaftor	efficacy	not stated	A455E allele. Rectal organoids carrying the A455E allele showed increased CFTR function as measured by FIS and SLA assay. Authors predict that cystic fibrosis patients carrying the A455E allele would have a clinical response to ivacaftor/lumacaftor treatment.	Allele A is associated with response to ivacaftor and lumacaftor.	27334259	1449192330
CFTR	rs78655421	A	ivacaftor	efficacy	yes	R117H allele. Assessment of C-sweat in three cystic fibrosis patients. A R117H-7T/F508del patient and a R117H-7T/R117H-7T patient both showed increased C-sweat production when treated with ivacaftor. However, a R117H-5T/F508del patient did not have a C-sweat response to ivacaftor.	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.	28419121	1449192603
CFTR	rs397508602	A	ivacaftor	efficacy	not stated	G1249R allele. Rectal organoids with the F508del/G1249R genotype showed increased CFTR function as measured by FIS and SLA assay. Two patients with the F508del/G1249R genotype showed an improvement in sweat chloride levels and lung function following four weeks of ivacaftor treatment.	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.	27334259	1449192323
CFTR	rs113993960	del/del	ivacaftor	efficacy	yes	F508del allele. Improvements seen in sweat chloride levels, BMI, CFQ-R score and LCI2.5 following 24 weeks of ivacaftor treatment.	Genotype del/del is associated with response to ivacaftor and lumacaftor in children with Cystic Fibrosis.	27805836	1449192632
CFTR	rs113993960	del/del	ivacaftor	efficacy	no	F508del allele. No significant change in ppFEV1 observed following 24 weeks of lumacaftor treatment.	Genotype del/del is not associated with response to ivacaftor and lumacaftor in children with Cystic Fibrosis.	27805836	1449192645
CFTR	rs75527207	A	ivacaftor	efficacy	yes	G551D allele. Significant improvements in sweat chloride level, ppFEV1 and CFQ-R scores were observed in the efficacy testing phase.	Allele A is associated with response to ivacaftor and tezacaftor in people with Cystic Fibrosis.	28930490	1449192671
CFTR	rs113993960	del/del	ivacaftor	efficacy	yes	F508del allele. Statistically significant improvements in sweat chloride levels and scores in the physical domain of CFQ-R. Non-significant increases in FEV1, FVC, BMI and in the respiratory domain of the CFQ-R and a non-significant reduction in the acute exacerbation rate.	Genotype del/del is associated with response to ivacaftor and lumacaftor in men with Cystic Fibrosis.	29451946	1449192749
CFTR	rs113993960	del/del	ivacaftor	efficacy	yes	Changes in FEV1, BMI, CFQ-R score and number of pulmonary exacerbation events were measured to determine response.	Genotype del/del is associated with response to ivacaftor and lumacaftor in people with Cystic Fibrosis.	25981758	1449192588
CFTR	rs75527207	A	ivacaftor	efficacy	not stated	G551 D allele. Increases in FEV1, body weight, CFQ-R scores and time to first pulmonary exacerbation were observed.	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.	25311995	1449192093
CFTR	rs397508442	T	ivacaftor	efficacy	not stated	Assessment of CFTR-mediated sweating in two patients carrying the S945L allele. Increased sweating in patients being treated with ivacaftor.	Allele T is associated with response to ivacaftor in people with Cystic Fibrosis.	29279204	1449192081
CFTR	rs113993960	del/del	ivacaftor	efficacy	yes	F508del allele. Patients treated with lumacaftor/ivacaftor had increased lung function (measured by changes in lung clearance index 2.5 and ppFEV1) and decreased sweat chloride levels following 24 weeks of treatment compared to patients treated with a placebo.	Genotype del/del is associated with response to ivacaftor and lumacaftor in children with Cystic Fibrosis.	28606620	1449192108
CFTR	rs121909011	T	ivacaftor	efficacy	not stated	R334W allele. Rectal organoids with the genotype R334W/R746X showed increased CFTR function as measured by FIS and SLA assay. Authors predict that cystic fibrosis patients with the genotype R334W/R746X would have a modest response to ivacaftor/lumacaftor treatment.	Allele T is associated with response to ivacaftor and lumacaftor.	27334259	1449192335
CFTR	rs74767530	T	ataluren	efficacy	no	Outcomes assessed for all nonsense mutations together (W1282X, G542X, R1162X, and R553X). Case-control study with placebo. Endpoint measured was change in Forced Expiratory Volume in 1 second. A difference was seen in the subset of patients on tobramycin.	Allele T is not associated with response to ataluren in people with Cystic Fibrosis as compared to allele C.	24836205	1447952420
CFTR	rs75039782	T	ataluren	efficacy	yes	Phase II prospective trial of patients with at least one nonsense mutation. Participants received 3 doses of 16 mg/kg per day for 14 days, followed by 14 days no treatment, and an additional 14 days of treatment. Measured change in chloride transport.	Allele T is associated with response to ataluren in people with Cystic Fibrosis as compared to allele C.	18722008	1447952261
CFTR	rs75039782	T	ataluren	efficacy	yes	This nonsense mutation was considered together with other nonsense mutations in CFTR (rs1139959 G542X, rs77010898 W1282X, and rs75039782 3849+10kB). Efficacy measured as increased chloride transport and increased CFTR expression on epithelial cell surface. Treatment in two 28 day cycles: 14 days on and 14 days off treatment. Ataluren taken 3x/day with randomization for low and high doses. No changes were seen in pulmonary function.	Allele T is associated with response to ataluren in children with Cystic Fibrosis as compared to allele C.	20622033	1447952771
CFTR	rs75527207	A	ivacaftor	efficacy	not stated	G551D allele. Case report of three patients with the F508del/G551D genotype. Reported improvements in FEV1, body weight, sweat chloride levels and scores in the respiratory domain of the CFQ-R.	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.	25473543	1449192709
CFTR	rs113993960	del/del	ivacaftor	efficacy	yes	Study found a significant improvement in FEV in all patients following 3 months of treatment. There was no difference in patients' BMI.	Genotype del/del is associated with response to ivacaftor and lumacaftor in people with Cystic Fibrosis.	28325531	1449191920
CFTR	rs75527207	A	ivacaftor	efficacy	not stated	Case study of a pediatric cystic fibrosis patient. Improvements in sweat chloride, BMI, bronchiectasis and lung function reported following ivacaftor treatment.	Allele A is associated with response to ivacaftor in children with Cystic Fibrosis.	25171465	1449192494
CFTR	rs75527207	A	ivacaftor	efficacy	yes	G551D allele. Significant increases in %FVC and %FEV1 compared to baseline were seen at 6 months of ivacaftor treatment, but both measures declined to baseline by 12 months of ivacaftor treatment. Significant improvements in BMI, body weight, sinus disease status and sweat chloride levels were seen at 12 months of ivacaftor treatment.	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.	25145599	1449192721
CFTR	rs77010898	A	ataluren	efficacy	yes	Phase II prospective trial of patients with at least one nonsense mutation. Participants received 3 doses of 16 mg/kg per day for 14 days, followed by 14 days no treatment, and an additional 14 days of treatment. Measured change in chloride transport.	Allele A is associated with response to ataluren in people with Cystic Fibrosis as compared to allele G.	18722008	1447952247
CFTR	rs77010898	A	ataluren	efficacy	yes	This nonsense mutation assessed in conjunction with the rs113993959 G542X nonsense mutation to show improved chloride transport.	Allele A is associated with response to ataluren in people with Cystic Fibrosis as compared to allele G.	21233271	1447952179
CFTR	rs77010898	A	ataluren	efficacy	no	Outcomes assessed for all nonsense mutations together (W1282X, G542X, R1162X, and R553X). Case-control study with placebo. Endpoint measured was change in Forced Expiratory Volume in 1 second. A difference was seen in the subset of patients on tobramycin.	Allele A is not associated with response to ataluren in people with Cystic Fibrosis as compared to allele G.	24836205	1447952362
CFTR	rs78655421	AA + AG	ivacaftor	efficacy	yes	24-week, placebo-controlled, double-blind, randomised clinical trial. Patients had the R117H variant and percentage of predicted forced expiratory volume in 1s (% predicted FEV1) of at least 40. Patients received either placebo or ivacaftor 150 mg every 12 hours for 24 weeks (1:1). The treatment difference in mean absolute change in % predicted FEV1 was 2.1 percentage points (p=0.2). But there were significant treatment differences in sweat chloride (-24.0 mmol/L, p<0.0001) and CFQ-R respiratory domain (8.4 points, p=0.009). In subgroup analyses, % predicted FEV1 improved in patients age 18 or older (p=0.01) but not 6-11 years old (favoring placebo, p=0.03). Patients' poly-T status was either 5T or 7T, and significant results for sweat chloride were seen for both types of poly-T status (p<0.0001 and p=0.0003, respectively)	Genotypes AA + AG is associated with response to ivacaftor in people with Cystic Fibrosis.	26070913	1447984897
CFTR	rs113993960	del/del	lumacaftor	efficacy	yes	F508del allele. Study carried out using primary bronchial epithelial cells from donors with cystic fibrosis. Secretion of chloride ions across the cell membrane was measured to determine CFTR activity.	Genotype del/del is associated with response to lumacaftor.	26137539	1449192125
CFTR	rs113993960	del/del	ivacaftor / lumacaftor	efficacy	yes	Patients were assigned to either 1) placebo 2) lumacaftor 200 mg/day monotherapy (day 1-28) then 250 mg/12 hr of ivacaftor combination therapy (day 28-56) 3) lumacaftor 400 mg/day monotherapy (day 1-28) then 250 mg/12 hr of ivacaftor combination therapy (day 28-56) 4) lumacaftor 600 mg/day monotherapy (day 1-28) then 250 mg/12 hr of ivacaftor combination therapy (day 28-56) 5) lumacaftor 400 mg/12 hrs monotherapy (day 1-28) then 250 mg/12 hr of ivacaftor combination therapy (day 28-56). Combination therapy provided significant improvements in sweat chloride concentrations in some groups, and some improvement in FEV1 in 1 group.	Genotype del/del is associated with response to ivacaftor / lumacaftor in people with Cystic Fibrosis.	24973281	1446903951
CFTR	rs113993960	del/del	ivacaftor / lumacaftor	efficacy	yes	This was a pooled analysis, stratifying patients by specific categories of lung function, including severe lung dysfunction with ppFEV less than 40. Some patients experienced respiratory adverse events upon initiation of therapy but these usually resolved with continued therapy. Patients were randomized to receive either 600 mg lumacaftor with 250 mg ivacaftor every 12 hours, or 400 mg lumacaftor with 250 mg ivacaftor every 12 hours, or placebo.	Genotype del/del is associated with increased response to ivacaftor / lumacaftor in people with Cystic Fibrosis as compared to genotypes CTT/CTT + CTT/del.	27298017	1448107229
CFTR	rs113993960	del	ivacaftor	efficacy	yes	F508del allele. Increases in CFQ-R scores and BMI were observed but were not statistically significant. Statistically significant decreases in sweat chloride levels and antibiotic use was observed. No change in ppFEV1. Study was not powered to assess efficacy.	Allele del is associated with response to ivacaftor and lumacaftor in people with Cystic Fibrosis.	29126871	1449192069
CFTR	rs113993960	CTT/del + del/del	cysteamine	efficacy	yes	Improvement measured as change in CFTR function by changes in chloride concentration. Patients with class II mutations benefit from cysteamine, whereas patients carrying 2 class I mutations do not. Schedule of treatment was cysteamine alone for 8 weeks, followed by cysteamine plus EGCG for 4 weeks, then EGCG alone for 8 weeks. Subjects continued other therapy throughout.	Genotypes CTT/del + del/del are associated with increased response to cysteamine in people with Cystic Fibrosis as compared to genotype CTT/CTT.	27035618	1447964109
CFTR	rs113993960	del/del	cavosonstat	efficacy	yes	Efficacy measured as reduction of sweat chloride after 28 days (p = 0.032). Improved sweat chloride content identified in the patients on 200 mg/ day dose only.	Genotype del/del is associated with response to cavosonstat in people with Cystic Fibrosis as compared to genotypes CTT/CTT + CTT/del.	28209466	1448604071
CFTR	rs113993960	CTT/del	ivacaftor	efficacy	no	F508del allele. All study participants had the F508del allele on one allele and a second that was predicted to not respond to ivacaftor/lumacaftor treatment. Three out of five outcomes did not show a significant improvement following 56 days of ivacaftor/lumacaftor treatment.	Genotype CTT/del is not associated with response to ivacaftor and lumacaftor in people with Cystic Fibrosis.	27898234	1449192520
CFTR	rs113993960	CTT/del	ivacaftor	efficacy	yes	This trial was designed to evaluate the efficacy and safety of tezacaftor with ivacaftor, ivacaftor monotherapy, or placebo. It is a phase 3, randomized, multicenter, double-blind, placebo-controlled, two-period, three-intervention crossover trial (NCT02392234). Patients were 12 years of age or older with cystic fibrosis (CF) and were heterozygous for the Phe508del CFTR mutation and a second allele with a CFTR mutation with residual function as assessed by in vitro studies. Each patient received two of the three regimens (tezacaftor with ivacaftor, ivacaftor monotherapy, or placebo).	Genotype CTT/del is associated with increased response to ivacaftor in people with Cystic Fibrosis.	29099333	1449154713
CFTR	rs113993960	del	ivacaftor	efficacy	not stated	F508del allele. Rectal organoids with the del/del genotype or carrying the del allele and a Class I mutation responded to treatment with ivacaftor and lumacaftor as measured by FIS and SLA assay.	Allele del is associated with response to ivacaftor and lumacaftor.	27334259	1449192352
CFTR	rs121908757	C	ivacaftor	efficacy	yes	S549R allele. It is unclear whether rs121908757 or rs121909005 is the causative variant. KONNECTION study evaluated safety and efficacy of ivacaftor in CF patients with a non-G551D gating mutation. Efficacy was measured by changes in FEV, sweat chloride, BMI and CFQ-R score. P value is given for improvement of all genotypes across all efficacy measurements in 8 weeks of treatment.	Allele C is associated with response to ivacaftor in people with Cystic Fibrosis.	25266159	1449191837
CFTR	rs397508453	C	ivacaftor	efficacy	yes	G970R allele. KONNECTION study evaluated safety and efficacy of ivacaftor in CF patients with a non-G551D gating mutation. Efficacy was measured by changes in FEV, sweat chloride, BMI and CFQ-R score. P value is given for improvement of all genotypes across all efficacy measurements in 8 weeks of treatment.	Allele C is associated with response to ivacaftor in people with Cystic Fibrosis.	25266159	1449191808