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
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.900 0.996 260 2005 2020
dbSNP: rs34778348
rs34778348
15 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 0.900 0.925 53 2006 2019
dbSNP: rs356219
rs356219
9 0.776 0.240 4 89716450 intron variant G/A snv 0.54 0.900 1.000 19 2008 2019
dbSNP: rs11931074
rs11931074
7 0.851 0.080 4 89718364 intron variant G/A;C;T snv 0.900 1.000 16 2009 2020
dbSNP: rs3129882
rs3129882
6 0.807 0.240 6 32441753 intron variant G/A snv 0.56 0.900 0.818 11 2010 2015
dbSNP: rs12456492
rs12456492
3 0.882 0.080 18 43093415 intron variant A/G snv 0.33 0.890 0.909 11 2012 2020
dbSNP: rs11724635
rs11724635
3 0.925 0.080 4 15735478 intron variant C/A;G snv 0.43 0.880 0.846 13 2011 2019
dbSNP: rs6812193
rs6812193
3 0.882 0.080 4 76277833 intron variant C/T snv 0.38 0.880 0.667 12 2009 2017
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: rs2736990
rs2736990
4 0.882 0.080 4 89757390 intron variant G/A;T snv 0.860 1.000 12 2009 2018
dbSNP: rs356220
rs356220
3 0.925 0.080 4 89720189 intron variant T/A;C snv 0.850 1.000 11 2010 2016
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: 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: rs11868035
rs11868035
14 0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33 0.840 0.500 4 2011 2019
dbSNP: rs6430538
rs6430538
2 0.925 0.080 2 134782397 intron variant C/T snv 0.62 0.830 1.000 6 2012 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: rs2942168
rs2942168
4 0.925 0.120 17 45637484 non coding transcript exon variant G/A;C;T snv 0.14 0.820 1.000 5 2011 2014
dbSNP: rs11248051
rs11248051
GAK
2 1.000 0.040 4 864544 intron variant C/G;T snv 0.820 1.000 3 2010 2014
dbSNP: rs2395163
rs2395163
3 0.882 0.160 6 32420032 intergenic variant T/C snv 0.17 0.820 1.000 3 2012 2020
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: rs12185268
rs12185268
5 0.851 0.160 17 45846317 missense variant A/G snv 0.15 0.14 0.810 1.000 4 2011 2019
dbSNP: rs1994090
rs1994090
2 1.000 0.040 12 40034759 intron variant G/A;T snv 0.810 1.000 4 2009 2016