0 5122Reads by AI crawlersClaude0ChatGPT0Google · Gemini0Perplexity1Meta AI0Microsoft · Copilot0Amazon2Apple0China (ByteDance, Huawei, Baidu…)0Others2Total5Counted by the name each crawler declares; requests found to be impersonating one are left out. Google · Gemini includes Googlebot, the search crawler whose index Google also uses for its AI features. Other search engines and bots are under Others.
Who was studied 119,332 African American or Afro-Caribbean individuals, 57,990 Hispanic or Latin American individuals, 6,421 East Asian ancestry individuals, 425,743 European ancestry individuals.
The effect
Each copy of the G allele shifted the measure 0.0411 lower (95% confidence interval 0.03-0.052); p = 7 × 10−13.
How common The G allele had a frequency of about 94% in the people studied.
Where it sits Chromosome 12, band 12q22 — a missense change in CEP83.
What ClinVar records
ClassificationBenign/Likely benign for Nephronophthisis 18; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 5 submitters), last evaluated 2026-02-04.
ClinVar record 1168156NM_016122.3(CEP83):c.826C>T (p.Arg276Trp)
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/ANo copy of the version the research linked to diastolic blood pressure (DBP, mean, inv-normal transformed). This is the starting point the study compared everyone against.
A/GOne copy of the version the research linked to diastolic blood pressure (DBP, mean, inv-normal transformed). That is a smaller link than two copies.
G/GTwo copies of the version the research linked to diastolic blood pressure (DBP, mean, inv-normal transformed). That is the strongest link of the three results. A link in a study is not a diagnosis.
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access
Questions about rs74340001
What is rs74340001?
rs74340001 is a single position in the genome, in or near the CEP83 gene. Published research associates it with diastolic blood pressure (dbp, mean, inv-normal transformed). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs74340001 linked to?
On MyGeneLog this position is linked to Blood Pressure. The research behind each link, and its sources, are set out on that condition page.
Does having rs74340001 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 rs74340001 come from?
GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
0 5122Reads by AI crawlersClaude0ChatGPT0Google · Gemini0Perplexity1Meta AI0Microsoft · Copilot0Amazon2Apple0China (ByteDance, Huawei, Baidu…)0Others2Total5Counted by the name each crawler declares; requests found to be impersonating one are left out. Google · Gemini includes Googlebot, the search crawler whose index Google also uses for its AI features. Other search engines and bots are under Others.
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.