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: rs2288904
rs2288904
8 0.807 0.240 19 10631494 missense variant A/G snv 0.80 0.83 0.720 0.750 4 2015 2020
dbSNP: rs9797861
rs9797861
9 0.790 0.200 19 10632450 intron variant C/A;G;T snv 0.710 1.000 2 2016 2016
dbSNP: rs4548995
rs4548995
1 19 10630195 intron variant G/A;C snv 0.700 1.000 1 2019 2019