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Standard

Vertex-wise sulcal depth

CCDC91 · rs2078017

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−93, 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 33,748 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 20.5 z score higher; p = 2 × 10−93.

How common The T allele had a frequency of about 31% in the people studied.

Where it sits Chromosome 12, band 12p11.22 — in an intron of CCDC91.

How common each version is

CT
Korean KRGDB
C 94.3% · T 5.7%
Korean Korea4K
C 93.7% · T 6.3%
Korean Korea1K
C 93.6% · T 6.4%
World gnomAD
C 72.9% · T 27.2%
World 1000 Genomes
C 80.0% · T 20.1%
World TOPMed
C 73.7% · T 26.3%

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 Vertex-wise sulcal depth. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Vertex-wise sulcal depth. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Vertex-wise sulcal depth. 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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Vertex-wise sulcal depth (rs2078017). MyGeneLog™. https://www.mygenelog.com/variants/rs2078017

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