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: rs9274407
rs9274407
3 0.925 0.120 6 32665055 missense variant A/C;T snv 0.77 0.010 1.000 1 2011 2011
dbSNP: rs2287622
rs2287622
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.020 1.000 2 2013 2019
dbSNP: rs4430924
rs4430924
1 2 61476721 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs117806152
rs117806152
1 14 96214520 intron variant A/C snv 1.2E-03 0.010 1.000 1 2019 2019