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: rs1458103
rs1458103
1 11 81336231 intron variant A/C snv 0.25 0.700 1.000 1 2019 2019
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: rs2463107
rs2463107
2 1.000 0.040 12 79699537 intron variant A/C snv 0.36 0.010 1.000 1 2010 2010
dbSNP: rs9370822
rs9370822
7 0.882 0.120 6 15544505 intron variant A/C snv 0.36 0.010 1.000 1 2010 2010
dbSNP: rs1043307
rs1043307
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2015 2015
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: rs8192506
rs8192506
DBI
2 1.000 0.040 2 119372265 missense variant A/C;G snv 4.0E-06; 2.5E-02 0.010 1.000 1 2007 2007
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: 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: rs11030107
rs11030107
2 1.000 0.040 11 27673288 intron variant A/G snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs1208512188
rs1208512188
1 8 38030595 missense variant A/G snv 9.2E-06 0.010 1.000 1 2013 2013
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: rs13440581
rs13440581
5 0.882 0.080 X 151181399 missense variant A/G snv 0.45 0.45 0.010 1.000 1 2015 2015
dbSNP: rs1390938
rs1390938
7 0.807 0.200 8 20179202 missense variant A/G snv 0.71 0.78 0.010 1.000 1 2016 2016
dbSNP: rs1401663578
rs1401663578
ACE
4 0.882 0.120 17 63483037 missense variant A/G snv 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs16916239
rs16916239
1 8 86631513 intron variant A/G snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs2071559
rs2071559
KDR
26 0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 0.010 1.000 1 2019 2019
dbSNP: rs2236418
rs2236418
6 0.882 0.120 10 26216567 upstream gene variant A/G snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs2478813
rs2478813
4 0.882 0.080 1 208073865 intron variant A/G snv 0.85 0.010 1.000 1 2007 2007
dbSNP: rs2941026
rs2941026
2 1.000 0.040 11 6261042 intron variant A/G snv 0.51 0.010 1.000 1 2017 2017