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: 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: 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: rs11145763
rs11145763
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 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: rs12598357
rs12598357
15 0.724 0.240 16 28329624 intergenic variant A/G snv 0.43 0.700 1.000 1 2015 2015
dbSNP: rs17466626
rs17466626
14 0.724 0.240 12 40366829 non coding transcript exon variant A/G snv 1.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs2065970
rs2065970
1 1.000 0.040 1 25725032 intron variant A/G snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs356086
rs356086
1 1.000 0.040 1 55528629 intron variant A/G snv 7.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs4625
rs4625
17 0.716 0.280 3 49534707 3 prime UTR variant A/G snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs5987017
rs5987017
1 1.000 0.040 X 153516714 upstream gene variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs72743477
rs72743477
14 0.724 0.240 15 67171953 intron variant A/G snv 0.17 0.700 1.000 1 2015 2015
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: 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: rs1926283
rs1926283
1 1.000 0.040 1 67982978 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2807264
rs2807264
14 0.724 0.240 X 136583619 downstream gene variant C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs5925651
rs5925651
1 1.000 0.040 X 22651114 intron variant C/A snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs6679677
rs6679677
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.700 1.000 1 2015 2015
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: rs11580078
rs11580078
14 0.724 0.240 1 67203951 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs62324212
rs62324212
15 0.724 0.240 4 122639784 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs2682665
rs2682665
1 1.000 0.040 8 13940496 intergenic variant C/A;T snv 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: rs10038271
rs10038271
1 1.000 0.040 5 157043390 intron variant C/T snv 0.16 0.700 1.000 1 2011 2011
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: rs12863738
rs12863738
14 0.724 0.240 X 136949968 intron variant C/T snv 0.16 0.700 1.000 1 2015 2015