rs397514661
A SNP in the EPCAM gene on chromosome 2. Its most notable genotype is C;T: Carrier of an infancy diarrhea mutation
- Gene
- EPCAM
- Location
- Chr 247,374,035 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TMost notableBadCarrier of an infancy diarrhea mutation
On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other EPCAM SNPs
- rs376155665A;GLynch syndrome mutationVery important
- rs863224453A;GLynch syndrome mutationVery important
- rs878854485C;TLynch syndrome mutationVery important
- rs878854491C;TLynch syndrome mutationVery important
- rs878854496A;GLynch syndrome mutationVery important
- rs267606785A;GCarrier of an infancy diarrhea mutationImportant
- rs606231203A;GCarrier of an infancy diarrhea mutationImportant
- rs606231204-;CCarrier of an infancy diarrhea mutationImportant
Notes
From SNPedia
Notes
C;T
Unaffected in absence of a second EPCAM gene mutation
Source and license
Adapted from rs397514661 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.