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: rs200697179
rs200697179
SLC12A3
1.000 0.120 16 56885363 missense variant C/G;T snv 2.5E-05; 1.3E-04
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.820 1.000 0 1996 2015