Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1183385193
rs1183385193
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.700 GeneticVariation UNIPROT
dbSNP: rs137853342
rs137853342
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G
CUI: C4748251
Disease:
LIDDLE SYNDROME 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1567262640
rs1567262640
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G
CUI: C1449843
Disease:
Pseudohypoaldosteronism, Type I, Autosomal Recessive 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1567270184
rs1567270184
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G
CUI: C4748251
Disease:
LIDDLE SYNDROME 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs5736
rs5736
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G
CUI: C0010674
Disease:
Cystic Fibrosis 		0.010 GeneticVariation BEFREE Whereas all have been reported in the dbSNP database, only p.Ala334Thr, p.Val573Ile, and p.Thr663Ala in SCNN1A, p.Gly442Val in SCNN1B and p.Gly183Ser in SCNN1G were previously reported in ENaC genetic studies of CF or CF-like patients. 25900089 2016
dbSNP: rs4401050
rs4401050
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G
CUI: C0020538
Disease:
Hypertensive disease 		0.010 GeneticVariation BEFREE Similar but nonsignificant trends were observed for the associations between both rs11064153 and rs4401050 and DBP changes (P interaction = 0.024 and 0.005, respectively) and between rs11604153 and hypertension incidence (P = 0.02). 24735600 2014