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Sensitive

Rheumatoid arthritis (rheumatoid factor and/or anti-cyclic citrullinated peptide seropositive)

HLA-DRB1 · rs9269234

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−15, with 3 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 357 African admixed and non-African admixed Arab ancestry cases, 352 African admixed and non-African admixed Arab ancestry controls; replicated in 234 Arab ancestry cases, 225 Arab ancestry controls.

The effect Each copy of the G allele carried 2.14 times the odds of Rheumatoid arthritis (rheumatoid factor and/or anti-cyclic citrullinated peptide seropositive) (95% confidence interval 1.78-2.57); p = 6 × 10−16.

How common The G allele had a frequency of about 65% in the people studied.

Where it sits Chromosome 6, band 6p21.32 — between genes, 10.5 kb from HLA-DRB9.

How common each version is

CG
Korean KRGDB
C 32.5% · G 67.5%
Korean Korea4K
C 31.9% · G 68.1%
Korean Korea1K
C 21.1% · G 78.9%
Japanese ToMMo
C 30.3% · G 69.7%
World gnomAD
C 32.7% · G 67.3%
World 1000 Genomes
C 31.8% · G 68.2%

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 Rheumatoid arthritis (rheumatoid factor and/or anti-cyclic citrullinated peptide seropositive). This is the starting point the study compared everyone against.
C/G One copy of the version the research linked to Rheumatoid arthritis (rheumatoid factor and/or anti-cyclic citrullinated peptide seropositive). That is a smaller link than two copies.
G/G Two copies of the version the research linked to Rheumatoid arthritis (rheumatoid factor and/or anti-cyclic citrullinated peptide seropositive). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

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Rheumatoid arthritis (rheumatoid factor and/or anti-cyclic citrullinated peptide seropositive) (rs9269234). MyGeneLog™. https://www.mygenelog.com/variants/rs9269234

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