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: rs1042636
rs1042636
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs104893689
rs104893689
10 0.790 0.200 3 122261589 missense variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1801725
rs1801725
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.010 1.000 1 2016 2016
dbSNP: rs193922442
rs193922442
5 0.827 0.120 3 122261589 frameshift variant G/- del 0.010 1.000 1 2019 2019
dbSNP: rs201858689
rs201858689
3 0.882 0.120 3 122284257 missense variant G/T snv 2.8E-05 0.010 1.000 1 2014 2014
dbSNP: rs767363250
rs767363250
5 0.827 0.280 3 122283992 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010