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: rs693
rs693
24 0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 0.020 1.000 2 2013 2014
dbSNP: rs1042031
rs1042031
11 0.790 0.200 2 21002881 stop gained C/A;T snv 8.0E-06; 0.15 0.010 1.000 1 2014 2014
dbSNP: rs1801701
rs1801701
2 1.000 0.080 2 21005955 missense variant C/T snv 7.0E-02 6.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs512535
rs512535
3 0.925 0.080 2 21044910 upstream gene variant T/C snv 0.45 0.010 1.000 1 2011 2011