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: rs2066844
rs2066844
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs35062843
rs35062843
1 1.000 0.040 17 16948892 synonymous variant A/C snv 4.2E-02 3.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs746054383
rs746054383
1 1.000 0.040 2 203956670 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs748910652
rs748910652
1 1.000 0.040 10 102400759 stop gained C/T snv 8.2E-06 0.010 1.000 1 2019 2019
dbSNP: rs751216929
rs751216929
1 1.000 0.040 17 16940442 missense variant C/T snv 1.8E-04 2.0E-04 0.010 1.000 1 2009 2009
dbSNP: rs774837924
rs774837924
1 1.000 0.040 20 46128901 missense variant A/C snv 4.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs1275561861
rs1275561861
23 0.672 0.360 6 29944350 missense variant G/A snv 0.020 1.000 2 2004 2005
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2004 2005
dbSNP: rs72553883
rs72553883
5 0.851 0.080 17 16940415 missense variant G/A;T snv 2.8E-05; 5.3E-03 0.050 0.800 5 2005 2015
dbSNP: rs34557412
rs34557412
15 0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03 0.100 0.900 10 2005 2018
dbSNP: rs10038271
rs10038271
1 1.000 0.040 5 157043390 intron variant C/T snv 0.16 0.700 1.000 1 2011 2011
dbSNP: rs10127016
rs10127016
1 1.000 0.040 X 53122914 intron variant G/T snv 0.700 1.000 1 2011 2011
dbSNP: rs10822050
rs10822050
14 0.724 0.240 10 62679011 downstream gene variant T/C snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs10988542
rs10988542
14 0.724 0.240 9 129894985 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs11095197
rs11095197
1 1.000 0.040 X 30958830 intron variant C/T snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs11145763
rs11145763
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs114846446
rs114846446
14 0.724 0.240 2 2944140 intron variant G/A snv 9.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs11580078
rs11580078
14 0.724 0.240 1 67203951 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs117372389
rs117372389
14 0.724 0.240 16 50634166 3 prime UTR variant G/T snv 1.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs11741255
rs11741255
14 0.724 0.240 5 132475490 intron variant G/A snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs11839053
rs11839053
14 0.724 0.240 13 106410694 intergenic variant T/C snv 7.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs12232497
rs12232497
18 0.701 0.360 17 39883866 intergenic variant T/C snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs12387999
rs12387999
1 1.000 0.040 X 48035670 intron variant G/A snv 5.0E-02 0.700 1.000 1 2011 2011
dbSNP: rs1250563
rs1250563
14 0.724 0.240 10 79287626 intron variant G/C snv 0.24 0.700 1.000 1 2015 2015
dbSNP: rs12598357
rs12598357
15 0.724 0.240 16 28329624 intergenic variant A/G snv 0.43 0.700 1.000 1 2015 2015