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Sensitive

Systemic lupus erythematosus

FBN2 · rs74989671

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−8, 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 892 Thai cases, 3,169 Thai controls.

The effect Each copy of the G allele carried 1.54 times the odds of Systemic lupus erythematosus; p = 2 × 10−8.

How common The G allele had a frequency of about 16% in the people studied.

Where it sits Chromosome 5, band 5q23.3 — in an intron of FBN2.

How common each version is

AG
Korean KRGDB
A 87.8% · G 12.2%
Korean Korea4K
A 86.2% · G 13.8%
Korean Korea1K
A 86.0% · G 14.0%
Japanese ToMMo
A 82.8% · G 17.2%
Vietnamese
A 88.0% · G 12.0%
World gnomAD
A 93.7% · G 6.3%
World 1000 Genomes
A 90.9% · G 9.1%
World TOPMed
A 93.3% · G 6.7%

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/A No copy of the version the research linked to Systemic lupus erythematosus. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Systemic lupus erythematosus. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Systemic lupus erythematosus. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Quoting this page

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Systemic lupus erythematosus (rs74989671). MyGeneLog™. https://www.mygenelog.com/variants/rs74989671

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