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Standard

ICD10 C56: Malignant neoplasm of ovary

NPAS3 · rs146344777

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 1,797 European ancestry cases, 293,494 European ancestry controls.

The effect Each copy of the G allele carried 0.27 times the odds of ICD10 C56: Malignant neoplasm of ovary (95% confidence interval 0.17-0.42); p = 1 × 10−8.

Where it sits Chromosome 14, band 14q13.1 — in an intron of NPAS3.

How common each version is

AG
World gnomAD
A 0.2% · G 99.8%
World 1000 Genomes
A 0.1% · G 99.9%
World TOPMed
A 0.2% · G 99.8%

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

A/A No copy of the version the research linked to ICD10 C56: Malignant neoplasm of ovary. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to ICD10 C56: Malignant neoplasm of ovary. That is a smaller link than two copies.
G/G Two copies of the version the research linked to ICD10 C56: Malignant neoplasm of ovary. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

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ICD10 C56: Malignant neoplasm of ovary (rs146344777). MyGeneLog™. https://www.mygenelog.com/variants/rs146344777

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