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 2018 2019
dbSNP: rs1057519855
rs1057519855
11 0.776 0.120 11 533873 missense variant CT/AC;TC mnv 0.010 1.000 1 2019 2019
dbSNP: rs28933406
rs28933406
27 0.667 0.480 11 533875 missense variant G/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs375878504
rs375878504
3 1.000 0.080 11 532741 synonymous variant G/A;C snv 8.1E-06 7.0E-06 0.010 1.000 1 2018 2018