rs121964967
A SNP in the CBS gene on chromosome 21. Its most notable genotype is C;T: Carrier of a homocystinuria mutation
- Gene
- CBS
- Location
- Chr 2143,059,299 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TGoodcommon in clinvar
- C;TMost notableBadCarrier of a homocystinuria mutation
SNPedia records rs121964967 on the minus strand: (A;A), (A;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other CBS SNPs
- rs121964972A;Ahomocystinuria which is unresponsive to vitamin B6Very important
- rs5742905G;Gpossible miscall in Ancestry V2.0 datasets; otherwise, Mild clinical homocystinuria which is responsive to vitamin B6Important
- rs121964962C;TCarrier of a homocystinuria mutationImportant
- rs121964963A;GCarrier of a homocystinuria mutationImportant
- rs121964965C;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
C;T
Unaffected in absence of a second CBS gene mutation
Source and license
Adapted from rs121964967 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.