rs267606723, CFTR

N. diseases: 2
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.810 GeneticVariation BEFREE In order to further elucidate the contribution of complex alleles to the wide phenotypic variability of cystic fibrosis (CF), we investigated the structure-function relationships of a severe CF-associated complex allele [p.S912L;p.G1244V]. 15744523 2005
Enterocutaneous Fistula
CUI: C0341318
Disease: Enterocutaneous Fistula
0.010 GeneticVariation BEFREE The p.Gly1244Glu mutation homozygous patient, who had undergone an ileal resection with ileostomy and enterocutaneous fistula, did not respond clinically to ivacaftor and did not modify his sweat test. 27659740 2017