Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs758236584
rs758236584
CBS
0.800 GeneticVariation UNIPROT

dbSNP: rs11700812
rs11700812
CBS
0.700 GeneticVariation UNIPROT

dbSNP: rs117687681
rs117687681
CBS
0.700 GeneticVariation UNIPROT

dbSNP: rs1191141364
rs1191141364
CBS
0.700 GeneticVariation UNIPROT

dbSNP: rs1192581453
rs1192581453
CBS
0.700 GeneticVariation UNIPROT

dbSNP: rs1339830457
rs1339830457
CBS
0.700 GeneticVariation UNIPROT

dbSNP: rs267606146
rs267606146
CBS
0.700 GeneticVariation UNIPROT

dbSNP: rs374593242
rs374593242
CBS
0.700 GeneticVariation UNIPROT

dbSNP: rs745764562
rs745764562
CBS
0.700 GeneticVariation UNIPROT

dbSNP: rs773734233
rs773734233
CBS
0.700 GeneticVariation UNIPROT

dbSNP: rs779270933
rs779270933
CBS
0.700 GeneticVariation UNIPROT

dbSNP: rs863223434
rs863223434
CBS
0.700 GeneticVariation UNIPROT

dbSNP: rs863223435
rs863223435
CBS
0.700 GeneticVariation UNIPROT

dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. 7611293

1995

dbSNP: rs121964962
rs121964962
CBS
0.810 GeneticVariation UNIPROT A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. 7611293

1995

dbSNP: rs121964969
rs121964969
CBS
0.810 GeneticVariation UNIPROT A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. 7611293

1995

dbSNP: rs760214620
rs760214620
CBS
0.810 GeneticVariation UNIPROT A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. 7611293

1995

dbSNP: rs121964963
rs121964963
CBS
0.800 GeneticVariation UNIPROT A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. 7611293

1995

dbSNP: rs121964964
rs121964964
CBS
0.800 GeneticVariation UNIPROT A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. 7611293

1995

dbSNP: rs121964966
rs121964966
CBS
0.800 GeneticVariation UNIPROT A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. 7611293

1995

dbSNP: rs121964972
rs121964972
CBS
0.800 GeneticVariation UNIPROT A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. 7611293

1995

dbSNP: rs121964973
rs121964973
CBS
0.800 GeneticVariation UNIPROT A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. 7611293

1995

dbSNP: rs28934891
rs28934891
CBS
0.800 GeneticVariation UNIPROT A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. 7611293

1995

dbSNP: rs372010465
rs372010465
CBS
0.800 GeneticVariation UNIPROT A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. 7611293

1995

dbSNP: rs760417941
rs760417941
CBS
0.800 GeneticVariation UNIPROT A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. 7611293

1995