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: rs80358300
rs80358300
1 1.000 0.080 11 86951266 missense variant G/A;C snv 1.6E-05 0.700 1.000 13 2002 2010
dbSNP: rs201030241
rs201030241
1 1.000 0.080 11 68446497 missense variant A/G snv 3.7E-04 5.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs373273223
rs373273223
3 0.882 0.080 11 46705063 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2018 2018