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: rs374163823
rs374163823
SLC12A3
1.000 0.120 16 56879593 missense variant G/A snv 2.8E-05 3.5E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.800 1.000 3 2005 2016