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: rs3758549
rs3758549
3 0.882 0.040 10 102244438 upstream gene variant G/A snv 0.14 0.100 0.818 11 2009 2014
dbSNP: rs1564282
rs1564282
GAK
3 1.000 0.040 4 858525 intron variant C/T snv 8.1E-02 0.870 0.889 9 2009 2015
dbSNP: rs531523381
rs531523381
1 1.000 0.040 10 86958785 missense variant G/C snv 0.080 1.000 8 1999 2018
dbSNP: rs12817488
rs12817488
3 1.000 0.040 12 122811747 intron variant G/A snv 0.39 0.850 0.857 7 2011 2016
dbSNP: rs4698412
rs4698412
1 1.000 0.040 4 15735725 intron variant G/A;T snv 0.850 1.000 7 2011 2019
dbSNP: rs823156
rs823156
1 1.000 0.040 1 205795512 non coding transcript exon variant G/A snv 0.77 0.70 0.850 1.000 7 2011 2019
dbSNP: rs11158026
rs11158026
1 1.000 0.040 14 54882151 intron variant C/A;G;T snv 0.730 1.000 6 2014 2018
dbSNP: rs12720208
rs12720208
3 0.925 0.040 8 16992890 3 prime UTR variant G/A snv 5.5E-02 0.060 0.333 6 2009 2017
dbSNP: rs34410987
rs34410987
3 0.882 0.040 12 40283897 missense variant C/T snv 7.4E-04 2.2E-04 0.060 0.833 6 2006 2012
dbSNP: rs823128
rs823128
1 1.000 0.040 1 205744250 intron variant G/A snv 0.88 0.850 1.000 6 2009 2018
dbSNP: rs947211
rs947211
3 0.925 0.040 1 205783537 non coding transcript exon variant A/G snv 0.64 0.840 1.000 6 2009 2017
dbSNP: rs10797576
rs10797576
1 1.000 0.040 1 232528865 intron variant C/T snv 0.12 0.730 1.000 5 2014 2018
dbSNP: rs11240572
rs11240572
1 1.000 0.040 1 205838885 intron variant C/A;T snv 0.730 1.000 5 2009 2016
dbSNP: rs147277743
rs147277743
2 0.925 0.040 1 16991749 missense variant C/T snv 1.8E-04 7.7E-05 0.050 0.400 5 2010 2016
dbSNP: rs1721100
rs1721100
2 0.925 0.040 8 16992989 3 prime UTR variant C/G;T snv 0.050 0.800 5 2004 2018
dbSNP: rs17466213
rs17466213
2 0.925 0.040 12 40308618 missense variant A/G snv 8.6E-04 5.8E-04 0.050 1.000 5 2007 2019
dbSNP: rs2102808
rs2102808
1 1.000 0.040 2 168260515 intergenic variant G/T snv 0.15 0.820 1.000 5 2011 2015
dbSNP: rs3822086
rs3822086
1 1.000 0.040 4 89743643 intron variant C/T snv 0.24 0.730 1.000 5 2011 2019
dbSNP: rs417968
rs417968
2 1.000 0.040 17 45651010 non coding transcript exon variant G/A snv 0.65 0.700 1.000 5 2009 2014
dbSNP: rs591323
rs591323
1 1.000 0.040 8 16839582 intron variant G/A;C snv 0.730 1.000 5 2014 2018
dbSNP: rs11012
rs11012
2 1.000 0.040 17 45436075 3 prime UTR variant C/T snv 0.13 0.13 0.800 1.000 4 2009 2012
dbSNP: rs11711441
rs11711441
1 1.000 0.040 3 183103487 intron variant G/A snv 0.12 0.810 1.000 4 2011 2013
dbSNP: rs11931532
rs11931532
1 1.000 0.040 4 15724143 intron variant T/C snv 0.13 0.730 0.500 4 2012 2019
dbSNP: rs14235
rs14235
1 1.000 0.040 16 31110472 synonymous variant G/A snv 0.39 0.31 0.720 1.000 4 2014 2019
dbSNP: rs1491942
rs1491942
1 1.000 0.040 12 40227006 intron variant C/G snv 0.23 0.800 1.000 4 2011 2014