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: 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: rs7815950
rs7815950
1 1.000 0.040 8 100646940 intron variant A/G snv 6.6E-02 0.700 1.000 1 2011 2011
dbSNP: rs8124301
rs8124301
1 1.000 0.040 20 57896547 downstream gene variant C/G;T snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs9690688
rs9690688
1 1.000 0.040 7 108079717 missense variant C/A snv 8.9E-02 0.17 0.700 1.000 1 2011 2011
dbSNP: rs975004
rs975004
1 1.000 0.040 7 90971314 intron variant A/G snv 6.9E-02 0.700 1.000 1 2011 2011
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: rs3117426
rs3117426
2 0.925 0.080 6 29304235 intron variant C/T snv 0.21 0.700 1.000 1 2011 2011
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: 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: 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: 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
dbSNP: rs12863738
rs12863738
14 0.724 0.240 X 136949968 intron variant C/T snv 0.16 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: rs1332099
rs1332099
14 0.724 0.240 10 99538694 downstream gene variant T/C;G snv 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