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: rs12319113
rs12319113
1 1.000 0.080 12 18871624 intergenic variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs182503338
rs182503338
1 1.000 0.080 6 34614497 intron variant T/G snv 2.3E-02 0.700 1.000 1 2013 2013
dbSNP: rs4149018
rs4149018
2 1.000 0.080 12 21138627 intron variant T/G snv 4.3E-02 0.700 1.000 1 2013 2013
dbSNP: rs2043055
rs2043055
3 0.925 0.080 11 112160901 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs3819024
rs3819024
17 0.701 0.560 6 52185988 upstream gene variant A/G snv 0.34 0.010 1.000 1 2015 2015
dbSNP: rs4711998
rs4711998
16 0.708 0.360 6 52185555 upstream gene variant A/G snv 0.64 0.010 1.000 1 2015 2015
dbSNP: rs7747909
rs7747909
7 0.790 0.320 6 52189451 3 prime UTR variant G/A snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs8177374
rs8177374
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.010 1.000 1 2009 2009