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: rs34637584
rs34637584
47 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.900 0.969 198 2005 2018
dbSNP: rs34778348
rs34778348
10 0.769 0.143 12 40363526 missense variant G/A snp 1.7E-03 1.4E-03 0.900 0.911 46 2007 2017
dbSNP: rs356219
rs356219
1 1.000 0.036 4 89716450 intron variant G/A snp 0.55 0.880 1.000 12 2008 2015
dbSNP: rs3129882
rs3129882
6 0.801 0.286 6 32441753 intron variant G/A snp 0.55 0.880 0.625 10 2010 2016
dbSNP: rs1564282
rs1564282
GAK
2 1.000 0.036 4 858525 intron variant C/T snp 9.0E-02 0.870 0.857 9 2009 2016
dbSNP: rs356220
rs356220
4 0.878 0.107 4 89720189 intron variant T/A,C snp 0.55 0.850 1.000 11 2010 2017
dbSNP: rs11724635
rs11724635
1 1.000 0.036 4 15735478 intron variant C/A snp 0.43 0.850 0.800 10 2011 2017
dbSNP: rs11931074
rs11931074
3 1.000 0.036 4 89718364 intron variant G/A,C,T snp 0.23 0.850 1.000 9 2010 2017
dbSNP: rs12456492
rs12456492
1 1.000 0.036 18 43093415 intron variant A/G snp 0.33 0.850 0.800 7 2012 2017
dbSNP: rs2736990
rs2736990
3 0.878 0.107 4 89757390 intron variant G/A,T snp 0.45 0.840 1.000 10 2010 2015
dbSNP: rs6812193
rs6812193
1 1.000 0.036 4 76277833 intron variant C/T snp 0.37 0.840 0.750 8 2010 2017
dbSNP: rs823156
rs823156
1 1.000 0.036 1 205795512 non coding transcript exon variant G/A snp 0.77 0.71 0.840 1.000 6 2011 2018
dbSNP: rs947211
rs947211
1 1.000 0.036 1 205783537 intergenic variant A/G snp 0.65 0.840 1.000 6 2010 2018
dbSNP: rs823128
rs823128
1 1.000 0.036 1 205744250 intron variant G/A snp 0.88 0.840 0.750 5 2010 2016
dbSNP: rs4698412
rs4698412
1 1.000 0.036 4 15735725 intron variant G/A,T snp 0.43 0.830 1.000 5 2011 2016
dbSNP: rs2102808
rs2102808
1 1.000 0.036 2 168260515 intergenic variant G/T snp 0.15 0.820 1.000 5 2011 2016
dbSNP: rs2942168
rs2942168
5 0.923 0.071 17 45637484 non coding transcript exon variant G/A snp 0.13 0.820 1.000 5 2011 2014
dbSNP: rs12817488
rs12817488
2 1.000 0.036 12 122811747 intron variant G/A snp 0.39 0.820 1.000 4 2011 2014
dbSNP: rs11248051
rs11248051
GAK
1 1.000 0.036 4 864544 intron variant C/G,T snp 3.2E-05; 9.3E-02 0.820 1.000 3 2010 2014
dbSNP: rs11868035
rs11868035
10 0.801 0.179 17 17811787 splice region variant G/A snp 0.45 0.34 0.820 1.000 2 2011 2014
dbSNP: rs11711441
rs11711441
1 1.000 0.036 3 183103487 G/A snp 0.12 0.810 1.000 4 2011 2013
dbSNP: rs1994090
rs1994090
1 1.000 0.036 12 40034759 intron variant G/A,T snp 0.85 0.810 < 0.001 4 2010 2017
dbSNP: rs393152
rs393152
6 0.878 0.107 17 45641777 non coding transcript exon variant A/G snp 0.18 0.26 0.810 1.000 4 2010 2016
dbSNP: rs11248060
rs11248060
1 1.000 0.036 4 970571 intron variant C/T snp 1.0E-01 0.810 1.000 3 2012 2014
dbSNP: rs34372695
rs34372695
1 1.000 0.036 1 156060246 intergenic variant C/T snp 1.8E-02 0.810 1.000 3 2011 2012