Source: ALL
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: rs1110976
rs1110976
3 1.000 0.040 11 113413797 intron variant T/G snv 0.010 1.000 1 2008 2008
dbSNP: rs11663050
rs11663050
1 1.000 0.040 18 37621190 intron variant T/G snv 0.51 0.700 1.000 1 2018 2018
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs2070587
rs2070587
DAO
5 0.882 0.080 12 108883967 intron variant T/G snv 0.32 0.010 1.000 1 2009 2009
dbSNP: rs6478623
rs6478623
2 1.000 0.040 9 123552844 intron variant T/G snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs1800955
rs1800955
8 0.827 0.160 11 636784 upstream gene variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs7033345
rs7033345
3 0.882 0.080 9 28717575 intergenic variant T/C;G snv 0.35 0.700 1.000 1 2018 2018
dbSNP: rs8067056
rs8067056
5 0.925 0.080 17 46006582 intron variant T/C;G snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs5751876
rs5751876
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.040 1.000 4 2008 2013
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.030 1.000 3 2011 2019
dbSNP: rs10507274
rs10507274
2 1.000 0.040 12 116723171 missense variant T/C snv 4.7E-02 4.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs11111
rs11111
5 0.882 0.080 5 37814000 3 prime UTR variant T/C snv 0.22 0.010 1.000 1 2013 2013
dbSNP: rs11204421
rs11204421
1 1.000 0.040 17 19994492 intergenic variant T/C snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs156429
rs156429
4 0.882 0.080 7 23266401 non coding transcript exon variant T/C snv 0.54 0.010 1.000 1 2016 2016
dbSNP: rs16902946
rs16902946
1 1.000 0.040 5 87982999 intron variant T/C snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs1799964
rs1799964
47 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2012 2012
dbSNP: rs246914
rs246914
1 1.000 0.040 5 103223706 intergenic variant T/C snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs2695121
rs2695121
16 0.716 0.280 19 50377484 5 prime UTR variant T/C snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs2710323
rs2710323
7 0.851 0.080 3 52781889 intron variant T/C snv 0.49 0.54 0.700 1.000 1 2018 2018
dbSNP: rs301430
rs301430
7 0.827 0.080 9 4576680 synonymous variant T/C snv 0.36 0.38 0.010 1.000 1 2010 2010
dbSNP: rs3213207
rs3213207
11 0.776 0.120 6 15627871 intron variant T/C snv 8.7E-02 0.010 1.000 1 2009 2009
dbSNP: rs353547
rs353547
3 0.925 0.080 3 52234850 intron variant T/C snv 0.64 0.700 1.000 1 2018 2018
dbSNP: rs356200
rs356200
4 0.882 0.160 4 89747463 intron variant T/C snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs3742020
rs3742020
1 1.000 0.040 12 109445449 non coding transcript exon variant T/C snv 0.33 0.700 1.000 1 2018 2018