Source: ALL
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: rs137853213
rs137853213
2 1 40307477 missense variant TG/CA mnv 0.010 1.000 1 2005 2005
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2012 2012
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2012 2012
dbSNP: rs61734651
rs61734651
6 0.882 0.280 20 62819980 missense variant C/T snv 4.7E-02 4.5E-02 0.010 1.000 1 2005 2005