rs137852843
A SNP in the CCM2 gene on chromosome 7. Its most notable genotype is G;T: Cerebral Cavernous Malformation mutation
- Gene
- CCM2
- Location
- Chr 745,068,563 (GRCh38)
- Highest magnitude
- 6.7Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- G;TMost notableBadCerebral Cavernous Malformation mutation
- T;TGoodcommon in clinvar
On SNPedia: (G;T), (T;T). 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
- 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
- rs1057520070-;CCerebral cavernous angioma associated mutation; variable penetranceVery important
- rs2107732G;Gcommon on affy axiom dataTypical
Notes
From SNPedia
Notes
aka c.656T>G (p.Leu219Arg)
Source and license
Adapted from rs137852843 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.