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: rs185927948
rs185927948
SLC12A3
1.000 0.120 16 56894555 missense variant T/A snv 6.0E-05 1.4E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.810 1.000 12 1996 2016