rs80338965
A SNP in the SMAD4 gene on chromosome 18. Its most notable genotype is -;CAGA: Juvenile polyposis syndrome
- Gene
- SMAD4
- Location
- Chr 1851,067,123 (GRCh38)
- Highest magnitude
- 5.1Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;ACAGBadNo summary available.
- -;CAGAMost notableBadJuvenile polyposis syndrome
- ACAG;ACAGGoodcommon in clinvar
- AGAC;AGACGoodcommon in clinvar
On SNPedia: (-;ACAG), (-;CAGA), (ACAG;ACAG), (AGAC;AGAC). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other SMAD4 SNPs
- rs80338963C;GJuvenile polyposis syndromeVery important
- rs121912581A;GNo summary available.Very important
- rs281875320A;GJuvenile polyposis syndromeVery important
- rs281875321C;TJuvenile polyposis syndromeVery important
- rs281875322A;GJuvenile polyposis syndromeVery important
- rs281875324A;GJuvenile polyposis syndromeVery important
- rs377767328-;TCJuvenile polyposis syndromeVery important
- rs377767331C;GJuvenile polyposis syndromeVery important
Notes
From SNPedia
Notes
-;ACAG
Hereditary hemorrhagic telangiectasia?
Source and license
Adapted from rs80338965 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.