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: rs17007417
rs17007417
2 0.923 0.071 2 71808541 regulatory region variant T/C snp 0.86 0.700 1 2018 2018
dbSNP: rs2143571
rs2143571
3 0.878 0.071 22 43995806 intron variant G/A snp 0.25 0.700 1 2018 2018
dbSNP: rs2896019
rs2896019
8 0.801 0.107 22 43937814 intron variant T/G snp 0.20 0.700 1 2018 2018
dbSNP: rs738409
rs738409
55 0.590 0.536 22 43928847 missense variant C/G snp 0.28 0.22 0.100 1.000 11 2010 2016
dbSNP: rs1800562
rs1800562
175 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.030 1.000 3 2002 2013
dbSNP: rs1799945
rs1799945
152 0.475 0.679 6 26090951 missense variant C/G snp 0.11 9.9E-02 0.020 0.500 2 2002 2013
dbSNP: rs58542926
rs58542926
20 0.707 0.250 19 19268740 missense variant C/T snp 6.5E-02 5.8E-02 0.020 1.000 2 2015 2015
dbSNP: rs1260326
rs1260326
63 0.667 0.321 2 27508073 missense variant T/C snp 0.63; 4.0E-06 0.67 0.010 1.000 1 2013 2013
dbSNP: rs2072906
rs2072906
4 0.846 0.143 22 43937292 intron variant A/G snp 0.25 0.20 0.010 1.000 1 2016 2016
dbSNP: rs2645424
rs2645424
5 0.821 0.071 8 11826954 intron variant A/G snp 0.55 0.010 1.000 1 2013 2013
dbSNP: rs7946
rs7946
5 0.846 0.107 17 17506246 missense variant C/T snp 0.59 0.60 0.010 1.000 1 2007 2007