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: rs7103534
rs7103534
1 1.000 11 108040925 intron variant T/C snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs7117111
rs7117111
1 1.000 11 108046360 synonymous variant A/G snv 0.68 0.59 0.010 1.000 1 2017 2017
dbSNP: rs11212495
rs11212495
1 1.000 11 108048172 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs6594357
rs6594357
5 0.925 5 109205522 intergenic variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs6542826
rs6542826
5 0.925 2 109433263 intron variant A/G snv 0.51 0.700 1.000 1 2017 2017
dbSNP: rs777521033
rs777521033
1 1.000 1 109923705 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2012 2012
dbSNP: rs16823858
rs16823858
5 0.925 3 115559835 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2010 2019
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs10892324
rs10892324
5 0.925 11 119032329 upstream gene variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1406795590
rs1406795590
1 1.000 12 123586856 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs7458938
rs7458938
5 0.925 7 125820594 intergenic variant G/A snv 0.72 0.700 1.000 1 2015 2015
dbSNP: rs8177374
rs8177374
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.010 1.000 1 2012 2012
dbSNP: rs17691394
rs17691394
5 0.925 7 126684537 intron variant A/G snv 0.13 0.700 1.000 1 2010 2010
dbSNP: rs143633948
rs143633948
6 0.882 0.080 6 131504454 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs11649112
rs11649112
5 0.925 16 13267554 intron variant G/A snv 0.22 0.700 1.000 1 2015 2015
dbSNP: rs766914563
rs766914563
16 0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs371074389
rs371074389
16 0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs781172058
rs781172058
16 0.732 0.320 2 136115340 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs763059810
rs763059810
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.030 1.000 3 2002 2014
dbSNP: rs17038463
rs17038463
5 0.925 3 1383484 intron variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs4835796
rs4835796
5 0.925 5 138446426 3 prime UTR variant T/G snv 0.56 0.700 1.000 1 2015 2015
dbSNP: rs4704846
rs4704846
2 1.000 5 157086333 3 prime UTR variant G/A snv 0.79 0.010 1.000 1 2014 2014
dbSNP: rs13064773
rs13064773
5 0.925 3 158893105 intergenic variant G/A snv 0.39 0.700 1.000 1 2015 2015