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: rs1960264
rs1960264
2 1.000 0.040 X 23781758 intron variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs2020936
rs2020936
10 0.776 0.160 17 30223796 intron variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs2072115
rs2072115
5 0.882 0.080 12 47751585 intron variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs2072621
rs2072621
7 0.851 0.080 X 151177387 non coding transcript exon variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs2111902
rs2111902
DAO
3 0.925 0.080 12 108884971 intron variant T/A;G snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs2298383
rs2298383
11 0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2349775
rs2349775
6 0.851 0.120 7 8678450 intron variant G/A;C snv 0.010 < 0.001 1 2014 2014
dbSNP: rs2488401
rs2488401
1 1.000 0.040 1 197733271 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2572431
rs2572431
2 1.000 0.040 8 11247568 downstream gene variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2973050
rs2973050
2 1.000 0.040 5 37817242 intron variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.700 1.000 1 2018 2018
dbSNP: rs3740393
rs3740393
10 0.776 0.280 10 102876898 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs3740688
rs3740688
2 0.925 0.120 11 47358789 missense variant G/A;T snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs3741775
rs3741775
DAO
3 0.925 0.080 12 108889827 intron variant A/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs3785879
rs3785879
1 1.000 0.040 17 45908270 non coding transcript exon variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs3812047
rs3812047
3 1.000 0.040 5 37835296 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3817190
rs3817190
6 0.851 0.080 12 121274274 missense variant T/A;G snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs3930965
rs3930965
2 1.000 0.040 10 4971951 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs4405857
rs4405857
1 1.000 0.040 3 65459852 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs4606
rs4606
16 0.752 0.120 1 192812042 3 prime UTR variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs4623951
rs4623951
DAO
3 0.925 0.080 12 108878275 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs4713916
rs4713916
11 0.790 0.160 6 35702206 intron variant A/C;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs4799723
rs4799723
1 1.000 0.040 18 33787086 intergenic variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs4856278
rs4856278
1 1.000 0.040 3 85599499 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs488359
rs488359
1 1.000 0.040 1 36698055 intergenic variant A/C;G snv 0.700 1.000 1 2018 2018