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: rs2740574
rs2740574
12 0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78 0.010 1.000 1 2011 2011
dbSNP: rs11190140
rs11190140
6 0.827 0.160 10 99531836 upstream gene variant T/C snv 0.55 0.700 1.000 1 2011 2011
dbSNP: rs4772201
rs4772201
1 1.000 0.080 13 99434005 upstream gene variant A/G snv 0.22 0.700 1.000 1 2013 2013
dbSNP: rs727263
rs727263
1 1.000 0.080 13 99351854 intron variant G/A;T snv 0.17; 7.9E-06 0.010 1.000 1 2014 2014
dbSNP: rs7809799
rs7809799
2 0.925 0.120 7 99162881 regulatory region variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs16914086
rs16914086
1 1.000 0.080 9 98226195 intron variant G/A snv 9.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs4900384
rs4900384
4 0.882 0.160 14 98032614 intergenic variant A/G snv 0.40 0.700 1.000 1 2011 2011
dbSNP: rs391745
rs391745
3 0.925 0.080 X 97839482 intergenic variant C/G;T snv 0.020 0.500 2 2011 2019
dbSNP: rs4763879
rs4763879
2 0.925 0.160 12 9757568 intron variant G/A snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs9320598
rs9320598
1 1.000 0.080 6 97571204 intron variant A/G snv 0.15 0.800 1.000 1 2013 2013
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2015 2015
dbSNP: rs11052877
rs11052877
1 1.000 0.080 12 9753094 3 prime UTR variant A/G snv 0.34 0.700 1.000 1 2013 2013
dbSNP: rs10466829
rs10466829
1 1.000 0.080 12 9723495 intron variant G/A snv 0.55 0.800 1.000 1 2011 2011
dbSNP: rs30187
rs30187
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.010 1.000 1 2012 2012
dbSNP: rs4763655
rs4763655
1 1.000 0.080 12 9602982 intron variant G/A snv 0.32 0.010 1.000 1 2011 2011
dbSNP: rs4409785
rs4409785
12 0.752 0.240 11 95578258 intron variant T/C snv 0.13 0.800 1.000 1 2011 2011
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.030 1.000 3 2007 2013
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.030 1.000 3 2007 2011
dbSNP: rs532834
rs532834
1 1.000 0.080 1 93002505 intergenic variant A/G;T snv 0.700 1.000 1 2007 2007
dbSNP: rs7923837
rs7923837
8 0.882 0.160 10 92722160 intergenic variant G/A;T snv 0.800 1.000 2 2011 2013
dbSNP: rs9523787
rs9523787
1 1.000 0.080 13 92711507 intron variant G/T snv 0.15 0.010 1.000 1 2010 2010
dbSNP: rs6680578
rs6680578
1 1.000 0.080 1 92711321 intron variant T/A snv 0.57 0.020 1.000 2 2010 2017
dbSNP: rs11810217
rs11810217
1 1.000 0.080 1 92682820 intron variant C/T snv 0.20 0.810 1.000 2 2011 2017
dbSNP: rs9523762
rs9523762
2 0.925 0.120 13 92679633 intron variant G/A snv 0.39 0.820 1.000 3 2009 2013
dbSNP: rs10735781
rs10735781
1 1.000 0.080 1 92655550 intron variant G/C snv 0.57 0.710 1.000 2 2011 2017