rs5742905
A SNP in the CBS gene on chromosome 21. Its most notable genotype is G;G: possible miscall in Ancestry V2.0 datasets; otherwise, Mild clinical homocystinuria which is responsive to vitamin B6
- Gene
- CBS
- Location
- Chr 2143,063,074 (GRCh38)
- Highest magnitude
- 3.5Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GMost notableBadpossible miscall in Ancestry V2.0 datasets; otherwise, Mild clinical homocystinuria which is responsive to vitamin B6
- A;GBadpossible miscall in Ancestry V2.0 datasets; otherwise, carrier for Mild clinical homocystinuria which is responsive to vitamin B
- A;AGoodcommon in clinvar
SNPedia records rs5742905 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 4 HapMap populations.
- AverageG;G 0% A;G 0% A;A 100%
- European ancestry (Utah)G;G 0% A;G 0% A;A 100%
- Han Chinese (Beijing)G;G 0% A;G 0% A;A 100%
- Japanese (Tokyo)G;G 0% A;G 0% A;A 100%
- Yoruba (Nigeria)G;G 0% A;G 0% A;A 100%
Related
Other CBS SNPs
- rs121964972A;Ahomocystinuria which is unresponsive to vitamin B6Very important
- rs121964962C;TCarrier of a homocystinuria mutationImportant
- rs121964963A;GCarrier of a homocystinuria mutationImportant
- rs121964965C;TCarrier of a homocystinuria mutationImportant
- rs121964967C;TCarrier of a homocystinuria mutationImportant
- rs375846341G;TCarrier of a homocystinuria mutationImportant
- rs398123151A;GCarrier of a homocystinuria mutationImportant
- rs751464024C;TCarrier of a homocystinuria mutationImportant
Notes
From SNPedia
Notes
Regarding Homocystinuria, the I278T mutation has been associated with B6 responsiveness and a relatively mild clinical phenotype when homozygous. Note: as of June 2016, we have noticed that this SNP may be miscalled in Ancestry V2.0 datasets. FTDNA & MyHeritage name: VG21S23270 Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma. Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study. 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. A candidate gene association study of 77 polymorphisms in migraine.
Source and license
Adapted from rs5742905 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.