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: rs10273639
rs10273639
5 0.821 0.143 7 142749077 intergenic variant T/A,C snp 0.52 0.800 1 2013 2013
dbSNP: rs12688220
rs12688220
2 0.923 0.036 X 107001537 intergenic variant C/T snp 0.20 0.800 1 2013 2013
dbSNP: rs2995271
rs2995271
1 1.000 0.036 10 30230903 intergenic variant C/T snp 0.65 0.800 1 2013 2013
dbSNP: rs379742
rs379742
1 1.000 0.036 X 106250703 intergenic variant G/A snp 0.17 0.800 1 2013 2013
dbSNP: rs12008279
rs12008279
3 0.878 0.071 X 106917472 intron variant A/G,T snp 0.46 0.700 1 2013 2013
dbSNP: rs12014762
rs12014762
3 0.878 0.071 X 106940440 intron variant C/T snp 0.14 0.700 1 2013 2013
dbSNP: rs201893408
rs201893408
24 0.707 0.429 8 93795970 missense variant T/A,C snp 8.0E-06; 1.5E-04 9.6E-05 0.700 1 2015 2015
dbSNP: rs4409525
rs4409525
2 0.923 0.036 X 106897095 intron variant G/A snp 0.29 0.700 1 2013 2013
dbSNP: rs5917027
rs5917027
1 1.000 0.036 X 106919404 intron variant C/A,T snp 0.44 0.700 1 2013 2013
dbSNP: rs6622126
rs6622126
4 0.846 0.071 X 106956972 missense variant G/A snp 0.58 0.56 0.700 1 2013 2013
dbSNP: rs7057398
rs7057398
4 0.846 0.071 X 106901299 intron variant T/C snp 0.40 0.700 1 2013 2013
dbSNP: rs752362727
rs752362727
20 0.744 0.357 8 93786255 missense variant C/T snp 2.0E-05 0.700 1 2015 2015
dbSNP: rs17107315
rs17107315
32 0.634 0.321 5 147828115 missense variant T/C snp 9.1E-03 8.8E-03 0.080 0.875 8 2002 2011
dbSNP: rs111033565
rs111033565
7 0.784 0.071 7 142751938 missense variant G/A snp 1.2E-05 0.070 0.714 7 2000 2010
dbSNP: rs267606982
rs267606982
10 0.769 0.071 7 142751938 missense variant GC/AT multinucleotide-polymorphism 0.070 0.714 7 2000 2010
dbSNP: rs202003805
rs202003805
7 0.821 0.036 7 142750561 missense variant C/T snp 9.0E-05 0.030 1.000 3 2000 2010
dbSNP: rs111033567
rs111033567
5 0.878 0.036 7 142750582 missense variant A/G snp 0.020 1.000 2 2000 2000
dbSNP: rs142540482
rs142540482
6 0.801 0.143 7 117509090 missense variant G/A snp 2.6E-04 1.9E-04 0.020 1.000 2 2000 2011
dbSNP: rs1800076
rs1800076
6 0.801 0.143 7 117509093 missense variant G/A,T snp 1.5E-02; 8.0E-06 1.7E-02; 3.2E-05 0.020 1.000 2 2000 2011
dbSNP: rs35153102
rs35153102
10 0.756 0.107 16 84873122 missense variant G/A snp 0.020 1.000 2 2002 2008
dbSNP: rs387906698
rs387906698
6 0.846 0.036 7 142751919 missense variant C/A,T snp 4.0E-06; 7.2E-05 3.2E-05; 6.4E-05 0.020 1.000 2 2002 2005
dbSNP: rs111033564
rs111033564
5 0.878 0.036 7 142751808 splice donor variant G/A snp 3.6E-05 0.010 1.000 1 2004 2004
dbSNP: rs111033566
rs111033566
9 0.784 0.071 7 142750600 missense variant A/C,T snp 0.010 1.000 1 2008 2008
dbSNP: rs11554495
rs11554495
19 0.699 0.286 12 52904798 missense variant C/A snp 4.9E-03 5.1E-03 0.010 < 0.001 1 2007 2007
dbSNP: rs11971167
rs11971167
3 0.878 0.143 7 117642528 missense variant G/A,T snp 1.3E-03 3.4E-03 0.010 < 0.001 1 2015 2015