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Body mass index

TULP1 · rs2064317

Where this position leads

Conditions: Childhood Body Mass Index, Obesity and Body Weight

rs2064317 Condition: Childhood Body Mass Index Childhood Body Mass Index Condition Condition: Obesity and Body Weight Obesity and Body Weight Condition rs2064317 rs2064317 TULP1

What the study found

Who was studied 441,761 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0142 higher (95% confidence interval 0.01-0.018); p = 6 × 10−13.

Where it sits Chromosome 6, band 6p21.31 — a missense change in TULP1.

What ClinVar records

Classification Benign for Leber congenital amaurosis 15, Retinitis pigmentosa, Retinitis pigmentosa 14, Leber congenital amaurosis 1, Retinal dystrophy; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 10 submitters), last evaluated 2026-02-04. ClinVar record 99671 NM_003322.6(TULP1):c.776T>C (p.Ile259Thr)

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 Body mass index. 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 Body mass index. That is a smaller link than two copies.
G/G No copy of the version the research linked to Body mass index. This is the starting point the study compared everyone against.
Source
Genetic evidence that high BMI in childhood has a protective effect on intermediate diabetes traits, including measures of insulin sensitivity and secretion, after accounting for BMI in adulthood
Hawkes G, Beaumont RN, Tyrrell J, Power GM, Wood A, Laakso M, Fernandes Silva L, Boehnke M, Yin X, Richardson TG, Smith GD, Frayling TM
Diabetologia · 2023 · PMID 37280435 · open access

Questions about rs2064317

What is rs2064317?

rs2064317 is a single position in the genome, in or near the TULP1 gene. Published research associates it with body mass index. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2064317 linked to?

On MyGeneLog this position is linked to Childhood Body Mass Index, Obesity and Body Weight. The research behind each link, and its sources, are set out on that condition page.

Does having rs2064317 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 rs2064317 come from?

GWAS Catalog, Diabetologia 2023, PMID:37280435. 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.

Body mass index (rs2064317). MyGeneLog™. https://www.mygenelog.com/variants/rs2064317

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