rs121964875
A SNP in the CDH1 gene on chromosome 16. Its most notable genotype is A;G: Likely miscall, at least by Ancestry and possibly by 23andMe; otherwise, Hereditary cancer-predisposing syndrome; gastric cancer related
- Gene
- CDH1
- Location
- Chr 1668,738,307 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GMost notableBadLikely miscall, at least by Ancestry and possibly by 23andMe; otherwise, Hereditary cancer-predisposing syndrome; gastric cancer related
- G;GGoodcommon in clinvar
On SNPedia: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other CDH1 SNPs
- rs121964873G;TCDH1-based gastric cancer riskVery important
- rs121964874C;TCDH1-based gastric cancer riskVery important
- rs121964876G;TFalse positives possible; otherwise, Hereditary cancer-predisposing syndromeVery important
- rs121964877C;TCDH1-based gastric cancer riskVery important
- rs267606712A;GCDH1-based gastric cancer riskVery important
- rs587776398G;TCDH1-based gastric cancer riskVery important
- rs587780113A;GCDH1-based gastric cancer riskVery important
- rs587780784C;TCDH1-based gastric cancer riskVery important
Notes
From SNPedia
Notes
Also known as c.59G>A, p.Trp20Ter or W20X, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar. The minor allele appears to be quite rare in DTC data. The only case which we've so far heard about was from the Ancestry v2 platform, and clinical testing showed it was a miscall. 23andMe name: i5004971
A;G
Data indicates a >10-fold overcall (false positive) rate for this genotype in Ancestry v2 data, and some (but not as high) of an overcall rate in 23andMe data. If you have this genotype according to DTC data and have it clinically tested, please contact us to tell us if it was confirmed or refuted.
Source and license
Adapted from rs121964875 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.