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Parkinson's disease or first degree relation to individual with Parkinson's disease

SNCA · rs5019538

Where this position leads

Condition: Parkinson's Disease

rs5019538 Condition: Parkinson's Disease Parkinson's Disease Condition rs5019538 rs5019538 SNCA

What the study found

Who was studied 15,056 European ancestry cases, 18,618 European ancestry proxy cases, 449,056 European ancestry controls; replicated in 22,632 European ancestry cases, 968,735 European ancestry controls.

The effect Each copy of the A allele shifted the measure 0.157 lower (95% confidence interval 0.13-0.18); p = 1 × 10−36.

How common The A allele had a frequency of about 68% in the people studied.

Where it sits Chromosome 4, band 4q22.1 — in an intron of SNCA.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Parkinson's disease or first degree relation to individual with Parkinson's disease compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Parkinson's disease or first degree relation to individual with Parkinson's disease.
G/G Published research associates this genotype with typical/baseline likelihood of Parkinson's disease or first degree relation to individual with Parkinson's disease — no copies of the reported risk allele.
Source
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, Tan M, Kia DA, Noyce AJ, Xue A, Bras J, Young E
and 39 more — show all
von Coelln R, Simón-Sánchez J, Schulte C, Sharma M, Krohn L, Pihlstrøm L, Siitonen A, Iwaki H, Leonard H, Faghri F, Gibbs JR, Hernandez DG, Scholz SW, Botia JA, Martinez M, Corvol JC, Lesage S, Jankovic J, Shulman LM, Sutherland M, Tienari P, Majamaa K, Toft M, Andreassen OA, Bangale T, Brice A, Yang J, Gan-Or Z, Gasser T, Heutink P, Shulman JM, Wood NW, Hinds DA, Hardy JA, Morris HR, Gratten J, Visscher PM, Graham RR, Singleton AB
23andMe Research Team · System Genomics of Parkinson's Disease Consortium · International Parkinson's Disease Genomics Consortium
The Lancet. Neurology · 2019 · PMID 31701892

Questions about rs5019538

What is rs5019538?

rs5019538 is a single position in the genome, in or near the SNCA gene. Published research associates it with parkinson's disease or first degree relation to individual with parkinson's disease. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs5019538 linked to?

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

Does having rs5019538 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 rs5019538 come from?

GWAS Catalog, Lancet Neurol 2019, PMID:31701892. 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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Parkinson's disease or first degree relation to individual with Parkinson's disease (rs5019538). MyGeneLog™. https://www.mygenelog.com/variants/rs5019538

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