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: 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: 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: 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: 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: rs2066844
rs2066844
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs16910534
rs16910534
1 1.000 0.040 10 57337568 intergenic variant C/T snv 3.1E-02 0.700 1.000 1 2011 2011
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: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2004 2005
dbSNP: rs6649722
rs6649722
1 1.000 0.040 X 144310656 upstream gene variant C/T snv 4.0E-02 0.700 1.000 1 2011 2011
dbSNP: rs12387999
rs12387999
1 1.000 0.040 X 48035670 intron variant G/A snv 5.0E-02 0.700 1.000 1 2011 2011
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: 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: 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: 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: 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: rs4299072
rs4299072
1 1.000 0.040 14 65238540 intron variant G/A snv 7.0E-02 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: rs2948491
rs2948491
1 1.000 0.040 X 40321436 intergenic variant C/T snv 8.1E-02 0.700 1.000 1 2011 2011
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: rs4592938
rs4592938
1 1.000 0.040 21 45232575 upstream gene variant G/A snv 9.1E-02 0.700 1.000 1 2011 2011
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: 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: rs17885785
rs17885785
14 0.724 0.240 11 2146620 non coding transcript exon variant C/T snv 0.14 0.700 1.000 1 2015 2015
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: rs12863738
rs12863738
14 0.724 0.240 X 136949968 intron variant C/T snv 0.16 0.700 1.000 1 2015 2015