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: rs1805008
rs1805008
16 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.040 0.750 4 2015 2016
dbSNP: rs34090186
rs34090186
3 0.882 0.080 16 89919458 missense variant G/A snv 9.6E-04 2.7E-04 0.020 0.500 2 2016 2018
dbSNP: rs1232525952
rs1232525952
2 0.925 0.080 16 89919597 synonymous variant G/A snv 8.1E-06 0.010 1.000 1 2007 2007
dbSNP: rs1340863788
rs1340863788
2 0.925 0.080 16 89919595 missense variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1805007
rs1805007
25 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.010 1.000 1 2007 2007
dbSNP: rs3212366
rs3212366
1 1.000 0.040 16 89919844 missense variant T/C;G snv 2.4E-03; 8.2E-06 0.010 1.000 1 2016 2016
dbSNP: rs33932559
rs33932559
2 0.925 0.160 16 89919617 missense variant T/C snv 3.1E-03 1.1E-03 0.010 < 0.001 1 2016 2016
dbSNP: rs885479
rs885479
16 0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02 0.010 1.000 1 2007 2007