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Vitamin D levels

HAL · rs3819817

Where this position leads

Condition: Vitamin D Deficiency and the GC Gene

rs3819817 Condition: Vitamin D Deficiency and the GC Gene Vitamin D Deficiency and the GC Gene Condition rs3819817 rs3819817 HAL

What the study found

Who was studied 2,619 whole genome sequenced European ancestry individuals, up to 38,213 European ancestry individuals, 1,442 individuals.

The effect Each copy of the T allele shifted the measure 0.04 nmol/L higher (95% confidence interval 0.02-0.06); p = 3 × 10−10.

How common The T allele had a frequency of about 21% in the people studied.

Where it sits Chromosome 12, band 12q23.1 — in an intron of HAL.

What each result means

C/C No copy of the version the research linked to Vitamin D levels. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Vitamin D levels. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Vitamin D levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source
Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis
Manousaki D, Dudding T, Haworth S, Hsu YH, Liu CT, Medina-Gómez C, Voortman T, van der Velde N, Melhus H, Robinson-Cohen C, Cousminer DL, Nethander M
and 41 more — show all
Vandenput L, Noordam R, Forgetta V, Greenwood CMT, Biggs ML, Psaty BM, Rotter JI, Zemel BS, Mitchell JA, Taylor B, Lorentzon M, Karlsson M, Jaddoe VVW, Tiemeier H, Campos-Obando N, Franco OH, Utterlinden AG, Broer L, van Schoor NM, Ham AC, Ikram MA, Karasik D, de Mutsert R, Rosendaal FR, den Heijer M, Wang TJ, Lind L, Orwoll ES, Mook-Kanamori DO, Michaëlsson K, Kestenbaum B, Ohlsson C, Mellström D, de Groot LCPGM, Grant SFA, Kiel DP, Zillikens MC, Rivadeneira F, Sawcer S, Timpson NJ, Richards JB
American journal of human genetics · 2017 · PMID 28757204

Questions about rs3819817

What is rs3819817?

rs3819817 is a single position in the genome, in or near the HAL gene. Published research associates it with vitamin d levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs3819817 linked to?

On MyGeneLog this position is linked to Vitamin D Deficiency and the GC Gene. The research behind each link, and its sources, are set out on that condition page.

Does having rs3819817 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 rs3819817 come from?

GWAS Catalog, Am J Hum Genet 2017, PMID:28757204. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Vitamin D levels (rs3819817). MyGeneLog™. https://www.mygenelog.com/variants/rs3819817

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