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: rs568513106
rs568513106
SLC12A3
1.000 0.120 16 56870699 missense variant T/C snv 1.6E-05 2.8E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.800 1.000 2 2008 2016