Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR CFTR gene variant for patients with congenital absence of vas deferens. 7573058

1995
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Phosphatase inhibitors activate normal and defective CFTR chloride channels. 7522329

1994
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Our results also suggest why R117H, R334W and R347P produce less severe clinical disease and have implications for our understanding of cystic fibrosis. 7680769

1993
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR A mutation in CFTR produces different phenotypes depending on chromosomal background. 7506096

1993
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H. 7692051

1993
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR The spectrum of CFTR mutations in south-west German cystic fibrosis patients. 1283148

1992
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 GeneticVariation CLINVAR