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: rs1322648460
rs1322648460
9 0.776 0.320 11 35139332 frameshift variant G/- delins 0.010 1.000 1 2008 2008
dbSNP: rs1800682
rs1800682
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs2369049
rs2369049
2 1.000 0.120 14 95705514 downstream gene variant A/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs7158782
rs7158782
1 1.000 0.120 14 95702794 intergenic variant A/G snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 1992 1992
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs752021744
rs752021744
29 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs759834538
rs759834538
3 0.925 0.120 9 136517294 missense variant C/A snv 1.7E-05 0.010 1.000 1 2016 2016
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2019 2019
dbSNP: rs4633
rs4633
25 0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45 0.010 1.000 1 2019 2019