Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909379
rs121909379
SLC12A3
1 1.000 0.120 16 56894558 missense variant T/C snv 1.2E-04 1.7E-04 0.800 1.000 19 1996 2016