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: rs2071286
rs2071286
12 0.752 0.280 6 32212119 intron variant C/T snv 0.17 0.700 1.000 1 2014 2014
dbSNP: rs9461776
rs9461776
11 0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs1109374
rs1109374
AK4
1 1.000 0.120 1 65167814 intron variant T/C snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs1884613
rs1884613
7 0.807 0.200 20 44351775 intron variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs35829419
rs35829419
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.010 1.000 1 2015 2015