Gene Knowledge Graph
UTC

Links from this page to related variants, conditions, drugs and topics are not included for automated readers. Those connections are the Gene Knowledge Graph and are licensed as data: https://www.mygenelog.com/license

Sensitive

Paget's disease

CSF1 · rs10494112

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

2 / 4

Its strongest genetic-study result is p = 10−34, 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 741 European ancestry cases, 2,699 European ancestry controls; replicated in 1,474 European ancestry cases, 1,671 European ancestry controls.

The effect Each copy of the G allele carried 1.72 times the odds of Paget's disease (95% confidence interval 1.57-1.87); p = 7 × 10−35.

How common The G allele had a frequency of about 20% in the people studied.

Where it sits Chromosome 1, band 1p13.3 — inside NDUFA5P10.

How common each version is

AG
Korean KRGDB
A 99.9% · G 0.1%
Korean Korea4K
A 99.9% · G 0.1%
Korean Korea1K
A 100.0% · G 0.1%
Japanese ToMMo
A 100.0% · G 0.0%
Vietnamese
A 99.5% · G 0.5%
World gnomAD
A 83.0% · G 17.0%
World 1000 Genomes
A 88.7% · G 11.3%
World TOPMed
A 84.0% · G 16.0%

By ancestry gnomAD

East Asian
A 99.9%
European (non-Finnish)
A 79.0% · G 21.0%
African / African American
A 87.3% · G 12.7%
South Asian
A 85.3% · G 14.7%
Admixed American (Latino)
A 87.8% · G 12.2%
Middle Eastern
A 81.0% · G 19.1%
Finnish
A 75.7% · G 24.3%
Ashkenazi Jewish
A 80.2% · G 19.8%

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 No copy of the version the research linked to Paget's disease. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Paget's disease. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Paget's disease. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source
Genome-wide association identifies three new susceptibility loci for Paget's disease of bone
Albagha OM, Wani SE, Visconti MR, Alonso N, Goodman K, Brandi ML, Cundy T, Chung PY, Dargie R, Devogelaer JP, Falchetti A, Fraser WD
and 17 more — show all
Gennari L, Gianfrancesco F, Hooper MJ, Van Hul W, Isaia G, Nicholson GC, Nuti R, Papapoulos S, Montes Jdel P, Ratajczak T, Rea SL, Rendina D, Gonzalez-Sarmiento R, Di Stefano M, Ward LC, Walsh JP, Ralston SH
Genetic Determinants of Paget's Disease (GDPD) Consortium
Nature genetics · 2011 · PMID 21623375

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

Paget's disease (rs10494112). MyGeneLog™. https://www.mygenelog.com/variants/rs10494112

← See all variants