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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 = 10−11, 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 7,319 European ancestry cases, 234,385 European ancestry controls; replicated in 2,547 European ancestry cases, 4,803 European ancestry controls.
The effect
Each copy of the A allele carried 1.17 times the odds of Multiple myeloma (95% confidence interval 1.12-1.22); p = 2 × 10−11.
Where it sits Chromosome 5, band 5q15 — in an intron of ELL2.
How common each version is
AG
KoreanKRGDB
A 63.8% · G 36.2%
KoreanKorea4K
A 64.4% · G 35.6%
Japanese ToMMo
A 71.2% · G 28.8%
Vietnamese
A 55.7% · G 44.3%
World gnomAD
A 69.2% · G 30.8%
World 1000 Genomes
A 64.1% · G 35.9%
World TOPMed
A 69.0% · G 31.0%
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
A/ATwo copies of the version the research linked to Multiple myeloma. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/GOne copy of the version the research linked to Multiple myeloma. That is a smaller link than two copies.
G/GNo copy of the version the research linked to Multiple myeloma. This is the starting point the study compared everyone against.
Nature communications · 2016 · PMID 27363682 · open access
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Quoting this page
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