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: rs56242606
rs56242606
2 1.000 0.040 7 12382283 intron variant T/C snv 5.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs6030245
rs6030245
1 20 42441919 intron variant T/C snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs6269
rs6269
10 0.827 0.240 22 19962429 5 prime UTR variant A/G snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs6462203
rs6462203
1 7 3636370 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6470292
rs6470292
2 1.000 0.040 8 124855801 intron variant A/G snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs683250
rs683250
2 1.000 0.040 11 83565125 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs7528604
rs7528604
3 0.925 0.040 1 65941669 intron variant G/A snv 0.42 0.710 1.000 1 2019 2019
dbSNP: rs7766029
rs7766029
7 0.851 0.080 6 88137716 downstream gene variant T/C snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs79928194
rs79928194
1 2 232784580 intron variant T/C snv 0.14 0.700 1.000 1 2019 2019
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: 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: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.030 1.000 3 2010 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: rs10835210
rs10835210
4 0.882 0.040 11 27674363 intron variant C/A;G snv 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: rs112146896
rs112146896
2 1.000 0.040 1 15418527 intron variant A/C;G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2018 2018
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: rs228697
rs228697
5 0.882 0.080 1 7827519 missense variant C/G snv 8.7E-02 7.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs2910931
rs2910931
3 0.925 0.080 5 32394809 intron variant T/A snv 0.63 0.010 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: rs356219
rs356219
9 0.776 0.240 4 89716450 intron variant G/A snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs3918242
rs3918242
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 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