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Standard

AMN protein levels

CDC42BPB · rs35840695

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−29, 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 47,745 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.416 higher (95% confidence interval 0.34-0.49); p = 1 × 10−29.

How common The C allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 14, band 14q32.32 — in an intron of CDC42BPB.

How common each version is

CG
Japanese ToMMo
G 100.0%
World gnomAD
C 0.5% · G 99.5%
World 1000 Genomes
C 0.2% · G 99.8%
World TOPMed
C 0.4% · G 99.6%

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. No Korean figure for this position yet.

What each result means

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

Quoting this page

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AMN protein levels (rs35840695). MyGeneLog™. https://www.mygenelog.com/variants/rs35840695

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