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: rs7280675
rs7280675
1 1.000 0.040 21 17898627 upstream gene variant T/G snv 8.2E-02 0.700 1.000 1 2011 2011
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: rs4765961
rs4765961
1 1.000 0.040 12 2559306 intron variant T/C;G 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: 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: rs12928404
rs12928404
15 0.724 0.240 16 28835925 splice region variant T/C snv 0.44 0.45 0.700 1.000 1 2015 2015
dbSNP: rs17140937
rs17140937
1 1.000 0.040 7 118148430 intergenic variant T/C snv 6.0E-02 0.700 1.000 1 2011 2011
dbSNP: rs2075184
rs2075184
14 0.724 0.240 2 102464132 intergenic variant T/C snv 0.78 0.700 1.000 1 2015 2015
dbSNP: rs5977837
rs5977837
1 1.000 0.040 X 133235903 downstream gene variant T/C snv 0.11 0.700 1.000 1 2011 2011
dbSNP: rs6689858
rs6689858
14 0.724 0.240 1 197406337 intron variant T/C snv 0.39 0.700 1.000 1 2015 2015
dbSNP: rs7042370
rs7042370
14 0.724 0.240 9 12785074 intron variant T/C snv 0.58 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: rs7672495
rs7672495
14 0.724 0.240 4 4990640 regulatory region variant T/C snv 0.21 0.700 1.000 1 2015 2015
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: 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: 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: rs10127016
rs10127016
1 1.000 0.040 X 53122914 intron variant G/T snv 0.700 1.000 1 2011 2011
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: rs36051895
rs36051895
15 0.716 0.240 9 4981866 upstream gene variant G/T snv 0.25 0.700 1.000 1 2015 2015
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: rs1689510
rs1689510
16 0.724 0.240 12 56002984 non coding transcript exon variant G/C snv 0.25 0.700 1.000 1 2015 2015
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: rs10988542
rs10988542
14 0.724 0.240 9 129894985 intron variant G/A;C snv 0.700 1.000 1 2015 2015