rs121964876
A SNP in the CDH1 gene on chromosome 16. Its most notable genotype is G;T: False positives possible; otherwise, Hereditary cancer-predisposing syndrome
- Gene
- CDH1
- Location
- Chr 1668,738,318 (GRCh38)
- Highest magnitude
- 6.7Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- G;TMost notableBadFalse positives possible; otherwise, Hereditary cancer-predisposing syndrome
On SNPedia: (G;G), (G;T). 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
- 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
- rs587781276-;TGCDH1-based gastric cancer riskVery important
Notes
From SNPedia
Notes
rs121964876, also known as c.70G>T, p.Glu24Ter, E24* and E24X, represents a very rare mutation in the CDH1 gene on chromosome 16. This mutation is reported as pathogenic for hereditary diffuse gastric cancer in OMIM (and therefore in ClinVar), inherited dominantly. 23andMe calls rs121964876 by the designation i5004972. Note also the presence of a different (i5004970, G>A rather than G>T) SNP designation tested by 23andMe at this same position; the G>A change results in a Lysine substitution (instead of the stop codon encoded by the G>T change), with unreported consequences in the literature.
Source and license
Adapted from rs121964876 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.