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: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.040 0.750 4 2013 2017
dbSNP: rs2106809
rs2106809
8 0.827 0.120 X 15599938 intron variant A/G snv 0.19 0.040 1.000 4 2014 2019
dbSNP: rs1799998
rs1799998
14 0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 0.030 1.000 3 2014 2020
dbSNP: rs4646155
rs4646155
3 0.925 0.080 X 15579386 intron variant C/T snv 3.9E-02 0.030 1.000 3 2018 2019
dbSNP: rs879922
rs879922
4 0.882 0.160 X 15572684 intron variant C/G snv 0.030 1.000 3 2018 2019
dbSNP: rs1037733674
rs1037733674
5 0.882 0.120 2 162147429 missense variant T/C snv 1.4E-05 0.020 1.000 2 1998 1999
dbSNP: rs10501367
rs10501367
2 1.000 0.040 11 57238113 upstream gene variant T/C snv 0.73 0.020 1.000 2 2010 2016
dbSNP: rs11191548
rs11191548
10 0.882 0.080 10 103086421 3 prime UTR variant T/C snv 8.6E-02 0.020 1.000 2 2012 2013
dbSNP: rs1212768461
rs1212768461
2 1.000 0.040 9 132897292 missense variant T/A;C snv 1.4E-05 0.020 1.000 2 2008 2012
dbSNP: rs1334899057
rs1334899057
4 0.882 0.160 20 23035908 missense variant T/C snv 7.0E-06 0.020 1.000 2 2010 2016
dbSNP: rs17249754
rs17249754
12 0.882 0.120 12 89666809 intron variant G/A snv 0.15 0.020 1.000 2 2016 2019
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2013 2017
dbSNP: rs2011616
rs2011616
2 1.000 0.040 2 27079693 intron variant G/A snv 0.37 0.020 1.000 2 2009 2010
dbSNP: rs2074192
rs2074192
9 0.827 0.160 X 15564667 intron variant C/T snv 0.40 0.020 1.000 2 2018 2019
dbSNP: rs2604204
rs2604204
3 0.882 0.120 11 128917535 3 prime UTR variant G/T snv 0.74 0.020 1.000 2 2013 2017
dbSNP: rs3761581
rs3761581
5 0.851 0.160 X 129655744 upstream gene variant A/C snv 0.11 0.020 0.500 2 2010 2016
dbSNP: rs3918181
rs3918181
2 0.925 0.120 7 151004695 intron variant G/A snv 0.35 0.020 0.500 2 2013 2014
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2005 2014
dbSNP: rs4240157
rs4240157
4 0.925 0.080 X 15568841 intron variant C/T snv 0.020 1.000 2 2018 2019
dbSNP: rs4646188
rs4646188
4 0.925 0.120 X 15583220 intron variant A/G snv 9.1E-02 0.020 1.000 2 2018 2019
dbSNP: rs4830542
rs4830542
3 0.925 0.080 X 15558483 downstream gene variant C/G;T snv 0.020 1.000 2 2018 2019
dbSNP: rs5194
rs5194
1 1.000 0.040 X 116173577 3 prime UTR variant A/G snv 0.020 0.500 2 2006 2014
dbSNP: rs7119375
rs7119375
2 1.000 0.040 11 57238490 upstream gene variant A/G;T snv 0.020 1.000 2 2010 2016
dbSNP: rs10199956
rs10199956
1 1.000 0.040 2 237907946 intron variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1043210477
rs1043210477
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 1.000 1 2010 2010