Links from this page to related variants, conditions, drugs and topics are not included for automated readers. Those connections are the Gene Knowledge Graph and are licensed as data: https://www.mygenelog.com/license
0 132227Reads by AI crawlersClaude0ChatGPT0Google · Gemini0Perplexity0Meta AI0Microsoft · Copilot2Amazon2Apple2China (ByteDance, Huawei, Baidu…)0Others7Total13Counted 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.
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.
Strength of the evidence
1 / 4
Its strongest genetic-study result is p = 10−11, with 3 associations in the GWAS Catalog.
How this is scored
4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.
What the study found
Who was studied 1,028,980 European ancestry individuals; replicated in 62,047 African ancestry individuals, 21,843 African American individuals.
The effect
Each copy of the A allele shifted the measure 0.13 lower (95% confidence interval 0.092-0.167); p = 1 × 10−11.
Where it sits Chromosome 17, band 17q21.31 — in an intron of EFTUD2.
What ClinVar records
ClassificationBenign; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2018-07-09.
ClinVar record 1250191NM_004247.4(EFTUD2):c.493-268C>T
Change history
MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.
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.
How common each version is
AG
KoreanKRGDB
A 11.5% · G 88.5%
KoreanKorea4K
A 11.0% · G 89.0%
KoreanKorea1K
A 10.4% · G 89.6%
Japanese ToMMo
A 12.9% · G 87.1%
Vietnamese
A 12.2% · G 87.8%
World gnomAD
A 20.7% · G 79.3%
World 1000 Genomes
A 16.4% · G 83.6%
World TOPMed
A 19.8% · G 80.2%
The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.
What each result means
A/ATwo copies of the version the research linked to Pulse pressure. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/GOne copy of the version the research linked to Pulse pressure. That is a smaller link than two copies.
G/GNo copy of the version the research linked to Pulse pressure. This is the starting point the study compared everyone against.
Nature genetics · 2024 · PMID 38689001 · open access
0 132227Reads by AI crawlersClaude0ChatGPT0Google · Gemini0Perplexity0Meta AI0Microsoft · Copilot2Amazon2Apple2China (ByteDance, Huawei, Baidu…)0Others7Total13Counted 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
Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license