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: 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: rs1275561861
rs1275561861
23 0.672 0.360 6 29944350 missense variant G/A snv 0.020 1.000 2 2004 2005
dbSNP: rs10127016
rs10127016
1 1.000 0.040 X 53122914 intron variant G/T snv 0.700 1.000 1 2011 2011
dbSNP: rs10988542
rs10988542
14 0.724 0.240 9 129894985 intron variant G/A;C snv 0.700 1.000 1 2015 2015
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: rs11580078
rs11580078
14 0.724 0.240 1 67203951 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1332099
rs1332099
14 0.724 0.240 10 99538694 downstream gene variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1926283
rs1926283
1 1.000 0.040 1 67982978 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2682665
rs2682665
1 1.000 0.040 8 13940496 intergenic variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2738774
rs2738774
14 0.724 0.240 20 63637985 downstream gene variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs2807264
rs2807264
14 0.724 0.240 X 136583619 downstream gene variant C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs375099
rs375099
1 1.000 0.040 2 109043821 intergenic variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs4246905
rs4246905
16 0.716 0.400 9 114790969 missense variant T/A;C snv 0.76 0.700 1.000 1 2015 2015
dbSNP: rs4765961
rs4765961
1 1.000 0.040 12 2559306 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs4869313
rs4869313
14 0.724 0.240 5 96888176 intron variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs55705316
rs55705316
14 0.724 0.240 1 206760172 regulatory region variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs5918500
rs5918500
1 1.000 0.040 X 38209996 intron variant C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs5987017
rs5987017
1 1.000 0.040 X 153516714 upstream gene variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs62324212
rs62324212
15 0.724 0.240 4 122639784 intron variant C/A;G snv 0.700 1.000 1 2015 2015
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: rs7660520
rs7660520
14 0.724 0.240 4 182824168 upstream gene variant G/A;C snv 0.700 1.000 1 2015 2015
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: rs7831697
rs7831697
14 0.724 0.240 8 137124061 regulatory region variant T/A;C;G snv 0.700 1.000 1 2015 2015
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