rs1057517754
A SNP in the KRIT1 gene on chromosome 7. Its most notable genotype is -;AAGAA: Cerebral cavernous angioma associated mutation; variable penetrance
- Gene
- KRIT1
- Location
- Chr 792,221,937 (GRCh38)
- Highest magnitude
- 5.2Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;AAGAAMost notableBadCerebral cavernous angioma associated mutation; variable penetrance
- AAGAA;AAGAAGoodcommon in clinvar
On SNPedia: (-;AAGAA), (AAGAA;AAGAA). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other KRIT1 SNPs
- rs137853139C;TCerebral Cavernous Malformation mutationVery important
- rs137853140C;GCerebral Cavernous Malformation mutationVery important
- rs267607203A;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
Notes
From SNPedia
Notes
aka c.1524_1528delAAGAA (p.Arg510Cysfs)
-;AAGAA
see links via main rs-page
Source and license
Adapted from rs1057517754 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.