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: rs116577908
rs116577908
4 3 17056907 intron variant A/G snv 7.1E-03 0.700 1.000 1 2019 2019
dbSNP: rs144614991
rs144614991
1 3 16925189 intron variant C/T snv 3.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs1992381
rs1992381
1 3 16886567 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs73146904
rs73146904
3 3 16891490 intron variant G/A snv 9.4E-02 0.700 1.000 1 2016 2016