rs80338963
A SNP in the SMAD4 gene on chromosome 18. Its most notable genotype is C;G: Juvenile polyposis syndrome
- Gene
- SMAD4
- Location
- Chr 1851,065,548 (GRCh38)
- Highest magnitude
- 5.1Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;GMost notableBadJuvenile polyposis syndrome
- C;TBadNo summary available.
On SNPedia: (C;C), (C;G), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other SMAD4 SNPs
- rs80338965-;CAGAJuvenile 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
Somatic alterations of the DPC4 gene in human colorectal cancers in vivo. Comparative mutational analysis of DPC4 (Smad4) in prostatic and colorectal carcinomas. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.
C;T
Juvenile polyposis syndrome
Source and license
Adapted from rs80338963 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.