Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75096551
rs75096551
CFTR
A 0.700 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs75096551
rs75096551
CFTR
A 0.700 CausalMutation CLINVAR Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. 15371902

2005
dbSNP: rs75096551
rs75096551
CFTR
A 0.700 CausalMutation CLINVAR Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. 9725922

1998
dbSNP: rs75096551
rs75096551
CFTR
A 0.700 CausalMutation CLINVAR Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR. 7691345

1993
dbSNP: rs75096551
rs75096551
CFTR
A 0.700 CausalMutation CLINVAR A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. 1695717

1990
dbSNP: rs75096551
rs75096551
CFTR
C 0.700 GeneticVariation CLINVAR