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Hematocrit

HBS1L · rs9483788

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10⁻⁵³⁸, with 6 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 24,167 European ancestry individuals; replicated in 9,456 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.22 % higher (95% confidence interval 0.16-0.28); p = 3 × 10⁻¹⁵.

Where it sits Chromosome 6, band 6q23.3 — between genes, 3.9 kb from LOC105378010.

How common each version is

CT

Korean KRGDB

C 32.1% · T 67.8%

Korean Korea4K

C 32.7% · T 67.3%

Korean Korea1K

C 32.0% · T 68.0%

Japanese ToMMo

C 32.2% · T 67.8%

Vietnamese

C 26.4% · T 73.6%

World gnomAD

C 19.5% · T 80.5%

World 1000 Genomes

C 16.2% · T 83.8%

World TOPMed

C 18.2% · T 81.8%

By ancestry gnomAD

East Asian

C 27.0% · T 73.0%

European (non-Finnish)

C 25.1% · T 74.9%

African / African American

C 7.6% · T 92.4%

South Asian

C 12.6% · T 87.4%

Admixed American (Latino)

C 17.7% · T 82.3%

Middle Eastern

C 18.7% · T 81.3%

Finnish

C 32.4% · T 67.6%

Ashkenazi Jewish

C 20.7% · T 79.3%

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. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

C/C Two copies of the version the research linked to Hematocrit. 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 Hematocrit. That is a smaller link than two copies.

T/T No copy of the version the research linked to Hematocrit. This is the starting point the study compared everyone against.

Source

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

Ganesh SK, Zakai NA, van Rooij FJ, Soranzo N, Smith AV, Nalls MA, Chen MH, Kottgen A, Glazer NL, Dehghan A, Kuhnel B, Aspelund T

and 50 more — show all

Nature genetics · 2009 · PMID 19862010 · open access

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Hematocrit (rs9483788). MyGeneLog™. https://www.mygenelog.com/variants/rs9483788

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