Standard

Height

ELP1 · rs4978760

Where this position leads

Condition: Height

rs4978760 Condition: Height Height Condition rs4978760 rs4978760 ELP1

What the study found

Who was studied 5,314,291 European ancestry, Hispanic or Latin American, East Asian ancestry, African ancestry, South Asian ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.0142 lower (95% confidence interval 0.013-0.015); p = 5 × 10−110.

How common The G allele had a frequency of about 44% in the people studied.

Where it sits Chromosome 9, band 9q31.3 — in an intron of ELP1.

What ClinVar records

Classification Benign for Familial dysautonomia; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2021-07-01. ClinVar record 681912 NM_003640.5(ELP1):c.2205-121C>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 No copy of the version the research linked to Height. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Height. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Height. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs4978760

What is rs4978760?

rs4978760 is a single position in the genome, in or near the ELP1 gene. Published research associates it with height. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs4978760 linked to?

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

Does having rs4978760 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 rs4978760 come from?

GWAS Catalog, Nature 2022, PMID:36224396. 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.

Height (rs4978760). MyGeneLog™. https://www.mygenelog.com/variants/rs4978760

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