rs387906391
A SNP in the ACVRL1 gene on chromosome 12. Its most notable genotype is -;CTC: Hereditary hemorrhagic telangiectasia
- Gene
- ACVRL1
- Location
- Chr 1251,914,508 (GRCh38)
- Highest magnitude
- 4.3Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;CCTBadNo summary available.
- -;CTCMost notableBadHereditary hemorrhagic telangiectasia
- CCT;CCTGoodcommon in clinvar
- CTC;CTCGoodcommon in clinvar
On SNPedia: (-;CCT), (-;CTC), (CCT;CCT), (CTC;CTC). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other ACVRL1 SNPs
- rs28936399G;THereditary hemorrhagic telangiectasiaVery important
- rs28936401C;THereditary hemorrhagic telangiectasiaVery important
- rs28936687A;GHereditary hemorrhagic telangiectasiaVery important
- rs28936688A;GHereditary hemorrhagic telangiectasiaVery important
- rs121909284A;GHereditary hemorrhagic telangiectasiaVery important
- rs121909286A;THereditary hemorrhagic telangiectasiaVery important
- rs121909288C;GHereditary hemorrhagic telangiectasiaVery important
- rs121909289C;GHereditary hemorrhagic telangiectasiaVery important
Notes
From SNPedia
Notes
-;CCT
Hereditary hemorrhagic telangiectasia?
Source and license
Adapted from rs387906391 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.