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: rs146632606
rs146632606
SLC12A3
1.000 0.120 16 56867150 missense variant G/C snv 9.3E-04 1.0E-03
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.800 1.000 2 1996 2015