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Hippocampal subfield left CA1 volume (body)

PTCH1 · rs2274692

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10⁻⁸, with 1 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10⁻⁵⁰. 2: ClinVar from one lab (1 star), or p ≤ 10⁻²⁰. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10⁻⁸). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 38,977 European ancestry, East Asian ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.0447 lower (95% confidence interval 0.03-0.059); p = 4 × 10⁻⁹.

How common The G allele had a frequency of about 37% in the people studied.

Where it sits Chromosome 9, band 9q22.32 — in an intron of PTCH1.

What ClinVar records

Classification Benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2018-06-23. ClinVar record 1238177 NM_000264.5(PTCH1):c.2561-80G>C

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

What this is ClinVar's aggregate record for this position (as of its 2026-11-01 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

How common each version is

CG

Korean KRGDB

C 66.9% · G 33.1%

Korean Korea4K

C 65.5% · G 34.5%

Korean Korea1K

C 66.7% · G 33.3%

Japanese ToMMo

C 70.4% · G 29.6%

Vietnamese

C 68.4% · G 31.6%

World gnomAD

C 56.5% · G 43.5%

World 1000 Genomes

C 59.9% · G 40.1%

World TOPMed

C 56.4% · G 43.6%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.

What each result means

C/C No copy of the version the research linked to Hippocampal subfield left CA1 volume (body). This is the starting point the study compared everyone against.

C/G One copy of the version the research linked to Hippocampal subfield left CA1 volume (body). That is a smaller link than two copies.

G/G Two copies of the version the research linked to Hippocampal subfield left CA1 volume (body). That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Cross-ancestry genome-wide association meta-analyses of hippocampal and subfield volumes

Liu N, Zhang L, Tian T, Cheng J, Zhang B, Qiu S, Geng Z, Cui G, Zhang Q, Liao W, Yu Y, Zhang H

and 32 more — show all

Gao B, Xu X, Han T, Yao Z, Qin W, Liu F, Liang M, Xu Q, Fu J, Xu J, Zhu W, Zhang P, Li W, Shi D, Wang C, Lui S, Yan Z, Chen F, Li J, Zhang J, Wang D, Shen W, Miao Y, Xian J, Gao JH, Zhang X, Li MJ, Xu K, Zuo XN, Wang M, Ye Z, Yu C

CHIMGEN Consortium

Nature genetics · 2023 · PMID 37337106

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Hippocampal subfield left CA1 volume (body) (rs2274692). MyGeneLog™. https://www.mygenelog.com/variants/rs2274692

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