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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 1,164,961 European ancestry individuals.
The effect
Each copy of the A allele shifted the measure 0.976 mmHg lower (95% confidence interval 0.76-1.19); p = 8 × 10−22.
How common The A allele had a frequency of about 1% in the people studied.
Where it sits Chromosome 12, band 12q24.21 — a missense change in TBX5.
What ClinVar records
ClassificationBenign/Likely benign for Holt-Oram syndrome, Cardiovascular phenotype, Aortic valve disease 2, TBX5-related disorder, Familial cancer of breast; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 16 submitters), last evaluated 2026-06-01.
ClinVar record 213813NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr)
What this is ClinVar's aggregate record for this position (as of its 2026-10-12 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/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/COne copy of the version the research linked to Pulse pressure. That is a smaller link than two copies.
C/CNo copy of the version the research linked to Pulse pressure. This is the starting point the study compared everyone against.
Nature genetics · 2020 · PMID 33230300 · open access
Questions about rs77357563
What is rs77357563?
rs77357563 is a single position in the genome, in or near the TBX5 gene. Published research associates it with pulse pressure. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs77357563 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 rs77357563 come from?
GWAS Catalog, Nature genetics 2020, PMID:33230300. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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