Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123151
rs398123151
CBS
0.810 GeneticVariation BEFREE The highest incidence of CBS deficiency in the world is found in the country of Qatar due to the combination of high rates of consanguinity and the presence of a founder mutation, c.1006C>T (p.R336C). 31240737

2019
dbSNP: rs398123151
rs398123151
CBS
A 0.810 CausalMutation CLINVAR Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria. 21517828

2012
dbSNP: rs398123151
rs398123151
CBS
0.810 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs398123151
rs398123151
CBS
A 0.810 CausalMutation CLINVAR Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase. 20455263

2010
dbSNP: rs398123151
rs398123151
CBS
A 0.810 CausalMutation CLINVAR Molecular neonatal screening for homocystinuria in the Qatari population. 19370759

2009
dbSNP: rs398123151
rs398123151
CBS
A 0.810 CausalMutation CLINVAR Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations. 16429402

2006
dbSNP: rs398123151
rs398123151
CBS
A 0.810 CausalMutation CLINVAR A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population. 16786517

2006
dbSNP: rs398123151
rs398123151
CBS
A 0.810 CausalMutation CLINVAR Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. 16205833

2005
dbSNP: rs398123151
rs398123151
CBS
A 0.810 CausalMutation CLINVAR Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S. 12815602

2003
dbSNP: rs398123151
rs398123151
CBS
A 0.810 CausalMutation CLINVAR The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. 12124992

2002
dbSNP: rs398123151
rs398123151
CBS
A 0.810 CausalMutation CLINVAR Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype. 10408774

1999
dbSNP: rs398123151
rs398123151
CBS
A 0.810 CausalMutation CLINVAR Komrower Lecture. Molecular basis of phenotype expression in homocystinuria. 7967489

1994
dbSNP: rs398123151
rs398123151
CBS
A 0.810 GeneticVariation CLINVAR