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: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2016 2018
dbSNP: rs2287886
rs2287886
9 0.776 0.280 19 7747650 upstream gene variant A/G;T snv 0.66 0.020 1.000 2 2012 2017
dbSNP: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.020 1.000 2 2013 2017
dbSNP: rs17576
rs17576
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2018 2018
dbSNP: rs3021094
rs3021094
8 0.827 0.360 1 206771607 intron variant T/G snv 8.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs3024498
rs3024498
7 0.790 0.360 1 206768184 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs5743305
rs5743305
8 0.807 0.200 4 186068179 upstream gene variant T/A snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs755622
rs755622
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs8103142
rs8103142
4 0.882 0.120 19 39244466 missense variant T/C snv 0.29 0.40 0.010 1.000 1 2016 2016