Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113857788
rs113857788
T 0.700 CausalMutation CLINVAR CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants. 28603918

2017

dbSNP: rs113857788
rs113857788
T 0.700 CausalMutation CLINVAR Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis. 25492507

2015

dbSNP: rs113857788
rs113857788
T 0.700 CausalMutation CLINVAR Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease: a pilot study. 16678503

2006

dbSNP: rs113857788
rs113857788
T 0.700 CausalMutation CLINVAR Mutation analysis of SPINK1 and CFTR gene in Korean patients with alcoholic chronic pancreatitis. 16187186

2005

dbSNP: rs113857788
rs113857788
T 0.700 CausalMutation CLINVAR Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis. 15121783

2004

dbSNP: rs113857788
rs113857788
T 0.700 CausalMutation CLINVAR A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases. 12952861

2003

dbSNP: rs113857788
rs113857788
T 0.700 CausalMutation CLINVAR Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. 9272157

1997

dbSNP: rs113857788
rs113857788
T 0.700 CausalMutation CLINVAR Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens. 9239681

1996

dbSNP: rs113857788
rs113857788
C 0.700 CausalMutation CLINVAR