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Standard

Uveitis

MICA · rs116135464

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−190, 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 2,616 European ancestry cases, 478,126 European ancestry controls, 125 East Asian ancestry cases, 174,600 East Asian ancestry controls.

The effect Each copy of the T allele shifted the measure 1.84 higher (95% confidence interval 1.72-1.96); p = 8 × 10−191.

Where it sits Chromosome 6, band 6p21.33 — in an intron of MICA.

How common each version is

CT
Korean KRGDB
C 97.0% · T 3.0%
Korean Korea4K
C 97.1% · T 2.9%
Japanese ToMMo
C 100.0% · T 0.0%
World gnomAD
C 96.9% · T 3.1%
World 1000 Genomes
C 98.6% · T 1.4%
World TOPMed
C 97.4% · T 2.6%

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 Uveitis. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Uveitis. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Uveitis. 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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Uveitis (rs116135464). MyGeneLog™. https://www.mygenelog.com/variants/rs116135464

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