Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75527207
rs75527207
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Spectrum and distribution of CFTR gene mutations in asthma and chronic pancreatitis cases of North Indian population. 24440239

2014
dbSNP: rs75527207
rs75527207
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs75527207
rs75527207
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Ivacaftor in a G551D homozygote with cystic fibrosis. 24066763

2013
dbSNP: rs75527207
rs75527207
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis. 22658665

2012
dbSNP: rs75527207
rs75527207
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Among these mutations, the CF-causing missense mutation G551D-CFTR (approx. 22768251

2012
dbSNP: rs75527207
rs75527207
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR All azoospermic males should be screened for cystic fibrosis mutations before intracytoplasmic sperm injection. 20381036

2010
dbSNP: rs75527207
rs75527207
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR We hypothesized that CF patients with the G551D mutation would have less severe disease than F508del homozygotes. 19734299

2009
dbSNP: rs75527207
rs75527207
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR These mutant mice show cystic fibrosis pathology but have a reduced risk of fatal intestinal blockage compared with 'null' mutants, in keeping with the reduced incidence of meconium ileus in G551D patients. 8605891

1996
dbSNP: rs75527207
rs75527207
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents. 7542778

1995
dbSNP: rs75527207
rs75527207
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Interaction between cystic fibrosis transmembrane conductance regulator and outwardly rectified chloride channels. 7493947

1995
dbSNP: rs75527207
rs75527207
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus. 1379413

1992
dbSNP: rs75527207
rs75527207
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. 2236053

1990
dbSNP: rs75527207
rs75527207
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. 1695717

1990