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: rs12229654
rs12229654
20 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 0.010 1.000 1 2017 2017
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 < 0.001 1 2018 2018
dbSNP: rs2853969
rs2853969
2 1.000 6 31388797 regulatory region variant G/A snv 0.10 0.010 1.000 1 2017 2017
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs7350481
rs7350481
8 0.882 0.040 11 116715567 regulatory region variant T/C snv 0.93 0.010 1.000 1 2017 2017