Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs876657421
CBS
0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 11
rs1555640521 0.790 0.320 18 6942110 frameshift variant A/- delins 15
rs1881457 0.790 0.280 5 132656717 intron variant A/C snv 0.21 9
rs17536211 1.000 0.040 4 46085716 intron variant A/C snv 0.14 3
rs10034259 1.000 0.040 4 104012596 intron variant A/C snv 0.19 1
rs12260436 1.000 0.040 10 102981357 intron variant A/C snv 0.29 1
rs1330745 1.000 0.040 13 58585815 intergenic variant A/C snv 0.15 1
rs34569203 1.000 0.040 6 27186205 intergenic variant A/C snv 0.14 1
rs62551581 1.000 0.040 9 11610677 intergenic variant A/C snv 0.15 1
rs6807666 1.000 0.040 3 85545278 intron variant A/C snv 0.59 1
rs2072115 0.882 0.080 12 47751585 intron variant A/C;G snv 5
rs13262595 1.000 0.040 8 142235609 intron variant A/C;G snv 3
rs3741775
DAO
0.925 0.080 12 108889827 intron variant A/C;G snv 3
rs12923795 1.000 0.040 16 7612705 intron variant A/C;G snv 1
rs488359 1.000 0.040 1 36698055 intergenic variant A/C;G snv 1
rs9936170 1.000 0.040 16 87477955 intron variant A/C;G snv 1
rs4713916 0.790 0.160 6 35702206 intron variant A/C;G;T snv 11
rs112146896 1.000 0.040 1 15418527 intron variant A/C;G;T snv 2
rs1890184 1.000 0.040 10 102988702 intron variant A/C;T snv 1
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1799971 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 95
rs9340799 0.583 0.680 6 151842246 intron variant A/G snv 0.32 62
rs2071559
KDR
0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 26
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 22
rs9296158 0.763 0.080 6 35599305 intron variant A/G snv 0.65 16