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: rs10754558
rs10754558
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs12137901
rs12137901
3 0.882 0.200 1 247417907 intron variant T/C snv 0.26 0.010 < 0.001 1 2015 2015
dbSNP: rs137852485
rs137852485
2 0.925 0.120 X 134475358 missense variant C/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1539019
rs1539019
6 0.882 0.240 1 247436999 intron variant A/C snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs2149356
rs2149356
14 0.742 0.360 9 117711921 intron variant T/G snv 0.54 0.010 1.000 1 2013 2013
dbSNP: rs2227306
rs2227306
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 < 0.001 1 2016 2016
dbSNP: rs224222
rs224222
15 0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21 0.010 1.000 1 2016 2016
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2016 2016
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs7512998
rs7512998
3 0.882 0.200 1 247419919 intron variant C/T snv 0.83 0.010 < 0.001 1 2015 2015
dbSNP: rs7442295
rs7442295
5 0.925 0.120 4 9964756 intron variant A/G snv 0.28 0.700 1.000 5 2008 2013
dbSNP: rs16890979
rs16890979
7 0.827 0.200 4 9920543 missense variant C/T snv 0.24 0.29 0.700 1.000 4 2008 2013
dbSNP: rs6855911
rs6855911
7 0.851 0.200 4 9934286 intron variant A/G snv 0.33 0.700 1.000 4 2007 2013
dbSNP: rs737267
rs737267
7 0.851 0.240 4 9933120 intron variant G/A;T snv 0.700 1.000 4 2008 2013
dbSNP: rs10001106
rs10001106
3 0.925 0.120 4 10125817 intergenic variant T/A;C snv 0.700 1.000 3 2010 2013
dbSNP: rs10003001
rs10003001
3 0.925 0.120 4 9982851 intron variant C/T snv 0.21 0.700 1.000 3 2010 2013
dbSNP: rs10006397
rs10006397
3 0.925 0.120 4 10034516 non coding transcript exon variant C/A snv 0.78 0.700 1.000 3 2010 2013
dbSNP: rs10009618
rs10009618
3 0.925 0.120 4 88172856 intron variant C/T snv 0.58 0.700 1.000 3 2010 2013
dbSNP: rs10022499
rs10022499
3 0.925 0.120 4 10004913 intron variant C/A snv 0.72 0.700 1.000 3 2010 2013
dbSNP: rs10023068
rs10023068
3 0.925 0.120 4 10003208 intron variant A/G snv 0.72 0.700 1.000 3 2010 2013
dbSNP: rs10033612
rs10033612
3 0.925 0.120 4 9983382 intron variant C/T snv 0.20 0.700 1.000 3 2010 2013
dbSNP: rs10516200
rs10516200
3 0.925 0.120 4 10080532 intron variant C/A;T snv 0.700 1.000 3 2010 2013
dbSNP: rs10516201
rs10516201
3 0.925 0.120 4 10122317 intergenic variant T/C snv 0.18 0.700 1.000 3 2010 2013
dbSNP: rs1071988
rs1071988
3 0.925 0.120 4 9973014 intron variant A/G;T snv 0.700 1.000 3 2010 2013