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Standard

Platelet count during third trimester of pregnancy

CARMIL1 · rs6935612

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−17, with 3 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 72,816 Chinese ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0548 lower (95% confidence interval 0.042-0.067); p = 9 × 10−18.

How common The C allele had a frequency of about 37% in the people studied.

Where it sits Chromosome 6, band 6p22.2 — in an intron of CARMIL1.

How common each version is

CT
Korean KRGDB
C 28.9% · T 71.1%
Korean Korea4K
C 27.9% · T 72.1%
Korean Korea1K
C 28.6% · T 71.4%
Japanese ToMMo
C 35.0% · T 65.0%
World gnomAD
C 27.1% · T 72.9%
World 1000 Genomes
C 30.2% · T 69.8%
World TOPMed
C 27.2% · T 72.8%

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.

What each result means

C/C Two copies of the version the research linked to Platelet count during third trimester of pregnancy. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Platelet count during third trimester of pregnancy. That is a smaller link than two copies.
T/T No copy of the version the research linked to Platelet count during third trimester of pregnancy. This is the starting point the study compared everyone against.
Source

Quoting this page

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Platelet count during third trimester of pregnancy (rs6935612). MyGeneLog™. https://www.mygenelog.com/variants/rs6935612

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