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: rs28936388
rs28936388
SLC12A3
1 1.000 0.120 16 56870119 missense variant C/T snv 1.2E-05 0.810 1.000 19 1996 2015