rs863223416
A SNP in the ACVRL1 gene on chromosome 12. Its most notable genotype is -;GGTG: Hereditary hemorrhagic telangiectasia
- Gene
- ACVRL1
- Location
- Chr 1251,913,651 (GRCh38)
- Highest magnitude
- 4.3Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;GGTGMost notableBadHereditary hemorrhagic telangiectasia
- GGTG;GGTGGoodcommon in clinvar
- I;IGoodcommon genotype
- TGGG;TGGGGoodcommon in clinvar
On SNPedia: (-;GGTG), (GGTG;GGTG), (I;I), (TGGG;TGGG). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
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
Source and license
Adapted from rs863223416 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.