RAPSN · rs34312154
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
Its strongest genetic-study result is p = 10−43, with 6 associations in the GWAS Catalog.
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 313,372 European ancestry individuals, 5,573 African ancestry individuals, 6,689 South Asian ancestry individuals.
The effect Each copy of the A allele shifted the measure 0.0557 higher (95% confidence interval 0.048-0.064); p = 3 × 10−43.
Where it sits Chromosome 11, band 11p11.2 — a missense change in RAPSN.
What ClinVar records
Classification
Benign/Likely benign for Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 2, Congenital myasthenic syndrome; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 11 submitters), last evaluated 2026-02-04.
ClinVar record 130090 NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys)
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
A 0.5% · G 99.5%
A 0.5% · G 99.5%
A 0.2% · G 99.8%
A 8.9% · G 91.1%
A 5.8% · G 94.2%
A 7.5% · G 92.5%
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.
rs34312154 is a single position in the genome, in or near the RAPSN gene. Published research associates it with high density lipoprotein cholesterol levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
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.
GWAS Catalog, Nature genetics 2021, PMID:33462484. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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
High density lipoprotein cholesterol levels (rs34312154). MyGeneLog™. https://www.mygenelog.com/variants/rs34312154