Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852635
rs137852635
SCNN1A ; LOC107984500
0.800 GeneticVariation UNIPROT Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes. 18634878

2008
dbSNP: rs137852635
rs137852635
SCNN1A ; LOC107984500
0.800 GeneticVariation UNIPROT Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism. 15853823

2005
dbSNP: rs137852635
rs137852635
SCNN1A ; LOC107984500
0.800 GeneticVariation UNIPROT Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. 10586178

1999
dbSNP: rs137852635
rs137852635
SCNN1A ; LOC107984500
A 0.800 CausalMutation CLINVAR

dbSNP: rs137852706
rs137852706
SCNN1B
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
SCNN1B
A 0.700 GeneticVariation CLINVAR

dbSNP: rs137852634
rs137852634
SCNN1A ; LOC107984500
A 0.700 CausalMutation CLINVAR

dbSNP: rs1567262640
rs1567262640
SCNN1G
A 0.700 CausalMutation CLINVAR

dbSNP: rs974854786
rs974854786
SCNN1A ; LOC107984500
0.700 GeneticVariation UNIPROT