Disease: Mineralocorticoid Excess Syndrome, Apparent ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768507002
rs768507002
Entrez Id: 3291
Gene Symbol: HSD11B2
HSD11B2
CUI: C0342488
Disease:
Mineralocorticoid Excess Syndrome, Apparent 		0.010 GeneticVariation BEFREE Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene. 19169481 2008