Standard

Hemoglobin concentration

ATP8B1 · rs8097764

Where this position leads

Condition: Blood Cell Counts

rs8097764 Condition: Blood Cell Counts Blood Cell Counts Condition rs8097764 rs8097764 ATP8B1

What the study found

Who was studied 563,946 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0221 SD unit lower (95% confidence interval 0.017-0.028); p = 5 × 10−15.

How common The A allele had a frequency of about 12% in the people studied.

Where it sits Chromosome 18, band 18q21.31 — in an intron of ATP8B1.

What ClinVar records

Classification Benign for Familial intrahepatic cholestasis; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2026-04-14. ClinVar record 1180894 NM_001374385.1(ATP8B1):c.3401-167C>T

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

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

Questions about rs8097764

What is rs8097764?

rs8097764 is a single position in the genome, in or near the ATP8B1 gene. Published research associates it with hemoglobin concentration. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs8097764 linked to?

On MyGeneLog this position is linked to Blood Cell Counts. The research behind each link, and its sources, are set out on that condition page.

Does having rs8097764 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs8097764 come from?

GWAS Catalog, Cell 2020, PMID:32888493. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Hemoglobin concentration (rs8097764). MyGeneLog™. https://www.mygenelog.com/variants/rs8097764

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