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: rs55951658
rs55951658
7 0.827 0.200 7 99770202 missense variant T/A;C snv 4.1E-04 9.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs3816873
rs3816873
9 0.790 0.200 4 99583507 missense variant T/C snv 0.25 0.26 0.010 1.000 1 2006 2006
dbSNP: rs1800591
rs1800591
3 0.882 0.120 4 99574331 intron variant G/T snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs1470756514
rs1470756514
1 1.000 0.040 4 9941975 missense variant A/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs16890979
rs16890979
7 0.827 0.200 4 9920543 missense variant C/T snv 0.24 0.29 0.010 1.000 1 2014 2014
dbSNP: rs3733591
rs3733591
2 0.925 0.040 4 9920506 missense variant C/T snv 0.25 0.17 0.010 1.000 1 2014 2014
dbSNP: rs11722228
rs11722228
6 0.851 0.160 4 9914117 intron variant C/T snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs1053239
rs1053239
1 1.000 0.040 3 9867065 3 prime UTR variant G/C snv 0.19; 5.6E-05 0.14 0.010 1.000 1 2017 2017
dbSNP: rs2479
rs2479
1 1.000 0.040 3 9866841 3 prime UTR variant A/G snv 0.79 0.010 1.000 1 2017 2017
dbSNP: rs773837458
rs773837458
1 1.000 0.040 4 9834927 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs10085637
rs10085637
1 1.000 0.040 7 95596501 5 prime UTR variant T/C;G snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs3779478
rs3779478
1 1.000 0.040 7 95593507 intron variant A/G snv 7.4E-02 0.010 1.000 1 2012 2012
dbSNP: rs2301630
rs2301630
1 1.000 0.040 7 95591957 intron variant C/T snv 0.50 0.51 0.010 1.000 1 2012 2012
dbSNP: rs12668651
rs12668651
1 1.000 0.040 7 95589126 intron variant T/C snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs10247649
rs10247649
2 0.925 0.080 7 95586935 non coding transcript exon variant A/G snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.030 1.000 3 2014 2018
dbSNP: rs2236242
rs2236242
9 0.776 0.280 14 94493715 intron variant T/A snv 0.31 0.020 1.000 2 2012 2016
dbSNP: rs7045890
rs7045890
1 1.000 0.040 9 94177906 non coding transcript exon variant G/A snv 0.93 0.010 1.000 1 2015 2015
dbSNP: rs9987289
rs9987289
10 1.000 0.040 8 9325848 non coding transcript exon variant A/G snv 0.87 0.800 1.000 1 2011 2011
dbSNP: rs10830962
rs10830962
7 0.851 0.160 11 92965261 upstream gene variant C/A;G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs10830956
rs10830956
1 1.000 0.040 11 92947847 intergenic variant C/T snv 0.33 0.800 1.000 1 2011 2011
dbSNP: rs1387153
rs1387153
10 0.807 0.200 11 92940662 downstream gene variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs5015480
rs5015480
9 0.851 0.120 10 92705802 downstream gene variant C/T snv 0.42 0.010 1.000 1 2010 2010
dbSNP: rs17368528
rs17368528
5 0.827 0.400 1 9264154 missense variant C/A;T snv 0.12 8.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs6688832
rs6688832
10 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.020 1.000 2 2011 2019