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: rs201255508
rs201255508
SLC12A3
1 1.000 0.120 16 56865482 missense variant C/T snv 3.2E-05 2.8E-05 0.800 1.000 19 1996 2015