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: rs2227983
rs2227983
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.040 1.000 4 2012 2017
dbSNP: rs1169803481
rs1169803481
7 0.807 0.160 7 55198851 missense variant A/G snv 4.0E-06 0.030 1.000 3 2008 2013
dbSNP: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.020 1.000 2 2013 2015
dbSNP: rs778985185
rs778985185
5 0.851 0.160 7 55163734 missense variant G/A snv 8.0E-06 3.5E-05 0.020 1.000 2 2014 2017
dbSNP: rs1140476
rs1140476
2 0.925 0.080 7 55200396 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1334180707
rs1334180707
2 0.925 0.080 7 55161510 missense variant C/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1408630981
rs1408630981
5 0.827 0.120 7 55205492 missense variant C/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.010 1.000 1 2012 2012