rs1057520070
A SNP in the CCM2 gene on chromosome 7. Its most notable genotype is -;C: Cerebral cavernous angioma associated mutation; variable penetrance
- Gene
- CCM2
- Location
- Chr 745,038,342 (GRCh38)
- Highest magnitude
- 5.2Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;CMost notableBadCerebral cavernous angioma associated mutation; variable penetrance
- C;CGoodcommon in clinvar
On SNPedia: (-;C), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other CCM2 SNPs
- rs137852841C;TCerebral Cavernous Malformation mutationVery important
- rs137852843G;TCerebral Cavernous Malformation mutationVery important
- rs797044623GC;TTCerebral Cavernous Malformation mutationVery important
- rs137852842A;GCerebral cavernous angioma associated mutation; variable penetranceVery important
- rs755800734C;TCerebral cavernous angioma associated mutation; variable penetranceVery important
- rs765548101C;GCerebral cavernous angioma associated mutation; variable penetranceVery important
- rs886041157C;TCerebral cavernous angioma associated mutation; variable penetranceVery important
- rs2107732G;Gcommon on affy axiom dataTypical
Notes
From SNPedia
Notes
aka c.183delC (p.Pro62Leufs)
-;C
see links via main rs-page
Source and license
Adapted from rs1057520070 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.