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: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.760 0.923 13 2009 2019
dbSNP: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.740 1.000 10 2009 2016
dbSNP: rs11554137
rs11554137
13 0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02 0.040 0.750 4 2010 2018
dbSNP: rs142883642
rs142883642
2 1.000 0.040 2 208248486 missense variant T/C snv 3.6E-05 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs762479277
rs762479277
1 1.000 0.040 2 208248395 missense variant T/C snv 1.6E-05 7.0E-06 0.010 1.000 1 2013 2013