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: rs12612435
rs12612435
1 1.000 0.040 2 136347972 intergenic variant G/T snv 0.75 0.700 1.000 1 2017 2017
dbSNP: rs2230345
rs2230345
6 0.807 0.160 10 119326585 missense variant A/T snv 3.8E-02 9.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2017 2017