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: rs115651556
rs115651556
1 12 94220122 missense variant G/A snv 1.1E-02 1.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs12313790
rs12313790
1 12 94239157 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs59129883
rs59129883
1 12 94227839 intron variant T/A snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs6538487
rs6538487
1 12 94230048 intron variant A/G snv 0.52 0.700 1.000 1 2018 2018