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Sagittal craniosynostosis

BBS9 · rs10262453

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 = 10−19, 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 130 European ancestry trios; replicated in 172 cases, 548 controls.

The effect Each copy of the A allele carried 4.17 times the odds of Sagittal craniosynostosis (95% confidence interval 3.13-5.88); p = 6 × 10−20.

How common The A allele had a frequency of about 69% in the people studied.

Where it sits Chromosome 7, band 7p14.3 — in an intron of BBS9.

How common each version is

AC
Korean KRGDB
A 98.0% · C 2.0%
Korean Korea4K
A 98.4% · C 1.7%
Korean Korea1K
A 98.0% · C 2.0%
Japanese ToMMo
A 93.1% · C 6.9%
World gnomAD
A 73.2% · C 26.8%
World 1000 Genomes
A 80.2% · C 19.9%
World TOPMed
A 73.0% · C 27.0%

By ancestry gnomAD

East Asian
A 96.6% · C 3.4%
European (non-Finnish)
A 69.1% · C 30.9%
African / African American
A 83.3% · C 16.7%
South Asian
A 78.4% · C 21.6%
Admixed American (Latino)
A 58.7% · C 41.3%
Middle Eastern
A 71.1% · C 28.9%
Finnish
A 66.7% · C 33.3%
Ashkenazi Jewish
A 75.5% · C 24.5%

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

A/A Two copies of the version the research linked to Sagittal craniosynostosis. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/C One copy of the version the research linked to Sagittal craniosynostosis. That is a smaller link than two copies.
C/C No copy of the version the research linked to Sagittal craniosynostosis. This is the starting point the study compared everyone against.
Source
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9
Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T
and 21 more — show all
Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuzé Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA
Nature genetics · 2012 · PMID 23160099

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

Sagittal craniosynostosis (rs10262453). MyGeneLog™. https://www.mygenelog.com/variants/rs10262453

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