rs139729994, CFTR

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pancreatitis, Chronic
CUI: C0149521
Disease: Pancreatitis, Chronic
0.010 GeneticVariation BEFREE The data suggest that the Japanese-specific CFTR variant L1156F causes mild dysfunction of CFTR and increases the risk of alcoholic chronic pancreatitis in Japanese. 26089335 2015
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.700 CausalMutation CLINVAR
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.700 GeneticVariation CLINVAR Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. 10923036 2000
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.700 GeneticVariation CLINVAR Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene. 9067754 1997