Standard

Blood protein levels

CACNA2D2 · rs78431498

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

What the study found

Who was studied 3,200 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.914 lower (95% confidence interval 0.72-1.11); p = 1 × 10⁻¹⁹.

How common The C allele had a frequency of about 98% in the people studied.

Where it sits Chromosome 3, band 3p21.31 — in an intron of CACNA2D2.

What ClinVar records

Classification Benign; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2021-05-20. ClinVar record 1245851 NM_006030.4(CACNA2D2):c.207-201G>A

What this is ClinVar's aggregate record for this position (as of its 2026-09-24 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

C/C Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Blood protein levels compared to the general population.

C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Blood protein levels.

T/T Published research associates this genotype with typical/baseline likelihood of Blood protein levels — no copies of the reported risk allele.

Source

Co-regulatory networks of human serum proteins link genetics to disease

Emilsson V, Ilkov M, Lamb JR, Finkel N, Gudmundsson EF, Pitts R, Hoover H, Gudmundsdottir V, Horman SR, Horman SR, Aspelund T, Shu L

and 17 more — show all

Trifonov V, Sigurdsson S, Manolescu A, Zhu J, Olafsson Ö, Jakobsdottir J, Lesley SA, To J, Zhang J, Harris TB, Launer LJ, Zhang B, Eiriksdottir G, Yang X, Orth AP, Jennings LL, Gudnason V

Science (New York, N.Y.) · 2018 · PMID 30072576

Questions about rs78431498

What is rs78431498?

rs78431498 is a single position in the genome, in or near the CACNA2D2 gene. Published research associates it with blood protein levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs78431498 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 rs78431498 come from?

GWAS Catalog, Science (New York, N.Y.) 2018, PMID:30072576. 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.

Blood protein levels (rs78431498). MyGeneLog™. https://www.mygenelog.com/variants/rs78431498

← See all variants