rs2298758
A SNP in the CBS gene on chromosome 21. Its most notable genotype is G;G: common in complete genomics
- Gene
- CBS
- Location
- Chr 2143,065,417 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 5 HapMap populations.
- AverageG;G 98%
- European ancestry (Utah)G;G 100%
- Han Chinese (Beijing)G;G 96%
- Japanese (Tokyo)G;G 97%
- Yoruba (Nigeria)G;G 100%
- Chinese (Denver)G;G 99%
Related
Conditions, medicines and genes
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
- rs121964967C;TCarrier of a homocystinuria mutationImportant
- rs375846341G;TCarrier of a homocystinuria mutationImportant
- rs398123151A;GCarrier of a homocystinuria mutationImportant
Notes
From SNPedia
Notes
Being investigated in Ehlers-Danlos syndrome
Source and license
Adapted from rs2298758 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.