rs267607203
A SNP in the KRIT1 gene on chromosome 7. Its most notable genotype is A;G: Cerebral Cavernous Malformation mutation
- Gene
- KRIT1
- Location
- Chr 792,222,870 (GRCh38)
- Highest magnitude
- 6.7Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs267607203 on the minus strand: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other KRIT1 SNPs
- rs137853139C;TCerebral Cavernous Malformation mutationVery important
- rs137853140C;GCerebral Cavernous Malformation mutationVery important
- rs267607204G;TCerebral Cavernous Malformation mutationVery important
- rs374303823C;GCerebral cavernous angioma associated mutation; variable penetranceVery important
- rs886039400-;AAGTCerebral cavernous angioma associated mutation; variable penetranceVery important
- rs886039401C;TCerebral cavernous angioma associated mutation; variable penetranceVery important
- rs886039402A;GCerebral cavernous angioma associated mutation; variable penetranceVery important
- rs886039571C;TCerebral cavernous angioma associated mutation; variable penetranceVery important
Notes
From SNPedia
Notes
KRIT1 gene variant, known as c.1363C>T, p.Gln455Ter and Q455X and due to numbering/naming differences also 742C-T, Q248*, and Gln248Ter. The rs267607203(T) allele is considered to be a dominantly inherited, founder mutation in Mexican-American/Hispanic families for cerebral cavernous malformations, also known as cavernous angiomas. This mutation can also be known as the "Common Hispanic Mutation" in the lay literature.undark.org In the US, a nonprofit involved in supporting cavernous angioma research and treatment is the Angioma Alliance, which oversees the Baca Family Historical Project.
Source and license
Adapted from rs267607203 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.