Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs775931992
rs775931992
SLC12A3
1.000 0.120 16 56879087 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.810 1.000 0 1996 2015