Source: CLINVAR ×
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: rs121913233
rs121913233
20 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.730 1.000 1 2014 2017
dbSNP: rs104894228
rs104894228
30 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.710 1.000 1 2014 2014
dbSNP: rs1057519855
rs1057519855
1 0.776 0.120 11 533873 missense variant CT/AC;TC mnv 0.710 1.000 1 2014 2014
dbSNP: rs121913496
rs121913496
11 0.724 0.440 11 533873 missense variant C/A;G;T snv 0.710 1.000 1 2010 2014