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: rs876657421
rs876657421
CBS
11 0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 0.010 1.000 1 2019 2019
dbSNP: rs1555640521
rs1555640521
15 0.790 0.320 18 6942110 frameshift variant A/- delins 0.700 0
dbSNP: rs10034259
rs10034259
1 1.000 0.040 4 104012596 intron variant A/C snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs12260436
rs12260436
1 1.000 0.040 10 102981357 intron variant A/C snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs1330745
rs1330745
1 1.000 0.040 13 58585815 intergenic variant A/C snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs17536211
rs17536211
3 1.000 0.040 4 46085716 intron variant A/C snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs1881457
rs1881457
9 0.790 0.280 5 132656717 intron variant A/C snv 0.21 0.010 < 0.001 1 2014 2014
dbSNP: rs34569203
rs34569203
1 1.000 0.040 6 27186205 intergenic variant A/C snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs62551581
rs62551581
1 1.000 0.040 9 11610677 intergenic variant A/C snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs6807666
rs6807666
1 1.000 0.040 3 85545278 intron variant A/C snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs12923795
rs12923795
1 1.000 0.040 16 7612705 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs13262595
rs13262595
3 1.000 0.040 8 142235609 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2072115
rs2072115
5 0.882 0.080 12 47751585 intron variant A/C;G snv 0.010 1.000 1 2010 2010
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: rs488359
rs488359
1 1.000 0.040 1 36698055 intergenic variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs9936170
rs9936170
1 1.000 0.040 16 87477955 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs112146896
rs112146896
2 1.000 0.040 1 15418527 intron variant A/C;G;T snv 0.010 < 0.001 1 2018 2018
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: rs1890184
rs1890184
1 1.000 0.040 10 102988702 intron variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.030 0.667 3 2002 2018
dbSNP: rs10112596
rs10112596
3 0.925 0.120 8 11722293 intron variant A/G snv 0.83 0.010 1.000 1 2018 2018
dbSNP: rs10871777
rs10871777
6 0.925 0.120 18 60184530 intergenic variant A/G snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs12938031
rs12938031
6 0.851 0.160 17 45777136 intron variant A/G snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs13282237
rs13282237
1 1.000 0.040 8 142244830 intron variant A/G snv 0.55 0.700 1.000 1 2018 2018