Disease: Pseudohypoaldosteronism, Type I, Autosomal Recessive ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852706
rs137852706
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C1449843
Disease:
Pseudohypoaldosteronism, Type I, Autosomal Recessive 		0.700 GeneticVariation UNIPROT Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. 8589714 1996
dbSNP: rs1182475940
rs1182475940
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C1449843
Disease:
Pseudohypoaldosteronism, Type I, Autosomal Recessive 		A 0.700 GeneticVariation CLINVAR