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: 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: rs1332099
rs1332099
14 0.724 0.240 10 99538694 downstream gene variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs2738774
rs2738774
14 0.724 0.240 20 63637985 downstream gene variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs2807264
rs2807264
14 0.724 0.240 X 136583619 downstream gene variant C/A snv 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: 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: rs222723
rs222723
1 1.000 0.040 14 23629422 upstream gene variant C/T snv 0.74 0.700 1.000 1 2011 2011
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: 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: rs5987017
rs5987017
1 1.000 0.040 X 153516714 upstream gene variant A/G snv 0.700 1.000 1 2011 2011
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: 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: 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: rs7660520
rs7660520
14 0.724 0.240 4 182824168 upstream gene variant G/A;C snv 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: 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: 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: 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: 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: 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: 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: 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: 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: rs1275561861
rs1275561861
23 0.672 0.360 6 29944350 missense variant G/A snv 0.020 1.000 2 2004 2005
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