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
37 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.020 1.000 2 2014 2017
dbSNP: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1057519855
rs1057519855
11 0.776 0.120 11 533873 missense variant CT/AC;TC mnv 0.010 1.000 1 2014 2014