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Heel bone mineral density

CELSR1 · rs35717986

Where this position leads

Condition: Heel Bone Mineral Density

rs35717986 Condition: Heel Bone Mineral Density Heel Bone Mineral Density Condition rs35717986 rs35717986 CELSR1

What the study found

Who was studied 426,824 British ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.0254 lower (95% confidence interval 0.017-0.034); p = 2 × 10−9.

How common The G allele had a frequency of about 95% in the people studied.

Where it sits Chromosome 22, band 22q13.31 — a synonymous change in CELSR1.

What ClinVar records

Classification Benign for CELSR1-related disorder; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2019-11-25. ClinVar record 3055245 NM_001378328.1(CELSR1):c.5112C>T (p.Asp1704=)

What this is ClinVar's aggregate record for this position (as of its 2026-10-12 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 Heel bone mineral density. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Heel bone mineral density. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Heel bone mineral density. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source
An atlas of genetic influences on osteoporosis in humans and mice
Morris JA, Kemp JP, Youlten SE, Laurent L, Logan JG, Chai RC, Vulpescu NA, Forgetta V, Kleinman A, Mohanty ST, Sergio CM, Quinn J
and 47 more — show all
Nguyen-Yamamoto L, Luco AL, Vijay J, Simon MM, Pramatarova A, Medina-Gomez C, Trajanoska K, Ghirardello EJ, Butterfield NC, Curry KF, Leitch VD, Sparkes PC, Adoum AT, Mannan NS, Komla-Ebri DSK, Pollard AS, Dewhurst HF, Hassall TAD, Beltejar MG, Adams DJ, Vaillancourt SM, Kaptoge S, Baldock P, Cooper C, Reeve J, Ntzani EE, Evangelou E, Ohlsson C, Karasik D, Rivadeneira F, Kiel DP, Tobias JH, Gregson CL, Harvey NC, Grundberg E, Goltzman D, Adams DJ, Lelliott CJ, Hinds DA, Ackert-Bicknell CL, Hsu YH, Maurano MT, Croucher PI, Williams GR, Bassett JHD, Evans DM, Richards JB
23andMe Research Team
Nature genetics · 2019 · PMID 30598549 · open access

Questions about rs35717986

What is rs35717986?

rs35717986 is a single position in the genome, in or near the CELSR1 gene. Published research associates it with heel bone mineral density. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs35717986 linked to?

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

Does having rs35717986 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 rs35717986 come from?

GWAS Catalog, Nature genetics 2019, PMID:30598549. 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.

Heel bone mineral density (rs35717986). MyGeneLog™. https://www.mygenelog.com/variants/rs35717986

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