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: rs662799
rs662799
33 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.030 1.000 3 2012 2016
dbSNP: rs670
rs670
13 0.763 0.360 11 116837697 5 prime UTR variant C/T snv 0.17 0.030 1.000 3 2011 2018
dbSNP: rs773641005
rs773641005
14 0.742 0.240 16 58723829 missense variant T/C snv 0.030 1.000 3 1999 2015
dbSNP: rs780094
rs780094
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.030 1.000 3 2008 2018
dbSNP: rs10811661
rs10811661
22 0.724 0.400 9 22134095 intergenic variant T/C snv 0.14 0.020 1.000 2 2015 2018
dbSNP: rs11575937
rs11575937
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.020 1.000 2 2000 2000
dbSNP: rs1260333
rs1260333
12 0.882 0.160 2 27525757 downstream gene variant A/G snv 0.58 0.020 1.000 2 2013 2018
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2001 2014
dbSNP: rs4363657
rs4363657
5 12 21215788 intron variant T/C snv 0.18 0.020 1.000 2 2015 2019
dbSNP: rs4646188
rs4646188
4 0.925 0.120 X 15583220 intron variant A/G snv 9.1E-02 0.020 0.500 2 2018 2018
dbSNP: rs599839
rs599839
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.020 1.000 2 2011 2013
dbSNP: rs6929846
rs6929846
10 0.827 0.160 6 26458037 5 prime UTR variant T/C snv 0.70 0.020 1.000 2 2012 2014
dbSNP: rs879922
rs879922
4 0.882 0.160 X 15572684 intron variant C/G snv 0.020 1.000 2 2018 2018
dbSNP: rs964184
rs964184
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.020 1.000 2 2010 2013
dbSNP: rs1012657750
rs1012657750
2 1 151368294 missense variant G/C snv 0.010 1.000 1 2020 2020
dbSNP: rs10488699
rs10488699
1 11 116761784 intron variant C/T snv 1.0E-01 0.010 1.000 1 2017 2017
dbSNP: rs10892151
rs10892151
3 1.000 11 117661016 intron variant C/T snv 9.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs11066782
rs11066782
2 1.000 0.040 12 109472747 intron variant C/T snv 0.17 0.010 1.000 1 2016 2016
dbSNP: rs11613718
rs11613718
2 1.000 0.040 12 109474527 intron variant C/T snv 0.17 0.010 1.000 1 2016 2016
dbSNP: rs11774572
rs11774572
2 1.000 0.040 8 11589291 regulatory region variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs12149545
rs12149545
7 0.851 0.080 16 56959249 upstream gene variant G/A snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs12363280
rs12363280
1 11 231980 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1249051329
rs1249051329
2 1 151369834 synonymous variant T/C snv 3.5E-05 0.010 1.000 1 2020 2020
dbSNP: rs1263163
rs1263163
2 11 116802796 intergenic variant G/A snv 0.10 0.010 1.000 1 2017 2017
dbSNP: rs1289389
rs1289389
2 13 98684036 3 prime UTR variant C/T snv 0.18 0.010 1.000 1 2019 2019