Gene: CBS ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs370167302
rs370167302
CBS
0.700 GeneticVariation UNIPROT We examined 10 independent alleles in Polish patients suffering from CBS deficiency, and we detected four already described mutations (c.1224-2A>C, c.684C>A, c.833T>C, and c.442G>A) and two novel mutations (c.429C>G and c.1039+1G>T). 15146473

2004
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT We examined 10 independent alleles in Polish patients suffering from CBS deficiency, and we detected four already described mutations (c.1224-2A>C, c.684C>A, c.833T>C, and c.442G>A) and two novel mutations (c.429C>G and c.1039+1G>T). 15146473

2004
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs121964962
rs121964962
CBS
0.810 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs121964969
rs121964969
CBS
0.810 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs760214620
rs760214620
CBS
0.810 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs121964963
rs121964963
CBS
0.800 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs121964964
rs121964964
CBS
0.800 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs121964966
rs121964966
CBS
0.800 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs121964972
rs121964972
CBS
0.800 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs121964973
rs121964973
CBS
0.800 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs28934891
rs28934891
CBS
0.800 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs372010465
rs372010465
CBS
0.800 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs760417941
rs760417941
CBS
0.800 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs763036586
rs763036586
CBS
0.800 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs763835246
rs763835246
CBS
0.800 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs769080151
rs769080151
CBS
0.800 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs770095972
rs770095972
CBS
0.800 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs775992753
rs775992753
CBS
0.800 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs778220779
rs778220779
CBS
0.800 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs781444670
rs781444670
CBS
0.800 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs781567152
rs781567152
CBS
0.800 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs786204608
rs786204608
CBS
0.800 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs786204609
rs786204609
CBS
0.800 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs786204757
rs786204757
CBS
0.800 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997