rs139729994, CFTR

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.700 CausalMutation CLINVAR
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