Sensitive

Hirschsprung disease

RET · rs2742234

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 = 10⁻¹⁷, 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 181 Chinese ancestry cases, 346 Chinese ancestry controls; replicated in 190 Chinese ancestry cases, 510 Chinese ancestry controls.

The effect The reported allele is T; the catalogue records no effect size ; p = 4 × 10⁻¹⁸.

Where it sits Chromosome 10, band 10q11.21 — in an intron of RET.

How common each version is

CT

Korean KRGDB

C 54.6% · T 45.4%

Korean Korea4K

C 53.3% · T 46.7%

Korean Korea1K

C 53.1% · T 46.9%

Japanese ToMMo

C 54.9% · T 45.1%

Vietnamese

C 55.8% · T 44.2%

World gnomAD

C 23.7% · T 76.3%

World 1000 Genomes

C 30.9% · T 69.1%

World TOPMed

C 23.3% · T 76.7%

By ancestry gnomAD

East Asian

C 50.4% · T 49.6%

European (non-Finnish)

C 23.3% · T 76.7%

African / African American

C 19.1% · T 80.9%

South Asian

C 37.9% · T 62.1%

Admixed American (Latino)

C 24.1% · T 75.9%

Middle Eastern

C 28.6% · T 71.4%

Finnish

C 21.8% · T 78.2%

Ashkenazi Jewish

C 28.9% · T 71.1%

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. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

C/C No copy of the version the research linked to Hirschsprung disease. This is the starting point the study compared everyone against.

C/T One copy of the version the research linked to Hirschsprung disease. That is a smaller link than two copies.

T/T Two copies of the version the research linked to Hirschsprung disease. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease

Garcia-Barcelo MM, Tang CS, Ngan ES, Lui VC, Chen Y, So MT, Leon TY, Miao XP, Shum CK, Liu FQ, Yeung MY, Yuan ZW

and 12 more — show all

Guo WH, Liu L, Sun XB, Huang LM, Tou JF, Song YQ, Chan D, Cheung KM, Wong KK, Cherny SS, Sham PC, Tam PK

Proceedings of the National Academy of Sciences of the United States of America · 2009 · PMID 19196962

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

Hirschsprung disease (rs2742234). MyGeneLog™. https://www.mygenelog.com/variants/rs2742234

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