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: rs121909055
rs121909055
1 1.000 0.080 2 110658451 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1801328
rs1801328
1 1.000 0.080 2 110674203 missense variant C/A snv 1.4E-05 0.700 0
dbSNP: rs376649190
rs376649190
1 1.000 0.080 2 110653457 missense variant G/C snv 6.8E-05 1.9E-04 0.700 0
dbSNP: rs587776642
rs587776642
1 1.000 0.080 2 110638153 frameshift variant A/- del 0.700 0