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Disorders of muscle, ligament, and fascia (PheCode 728)

PCSK5 · rs140064789

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 = 10−12, with 1 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 457 African American or Afro-Caribbean cases, 120,533 African American or Afro-Caribbean controls, 1,468 European ancestry cases, 445,966 European ancestry controls, 213 Hispanic or Latin American cases, 59,229 Hispanic or Latin American controls.

The effect Each copy of the C allele shifted the measure 3.49 lower (95% confidence interval 3.47-3.51); p = 1 × 10−12.

How common The C allele had a frequency of about 100% in the people studied.

Where it sits Chromosome 9, band 9q21.13 — in an intron of PCSK5.

How common each version is

AC
World gnomAD
A 0.0% · C 100.0%
World 1000 Genomes
A 0.2% · C 99.8%
World TOPMed
A 0.1% · C 100.0%

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. No Korean figure for this position yet.

What each result means

A/A No copy of the version the research linked to Disorders of muscle, ligament, and fascia (PheCode 728). This is the starting point the study compared everyone against.
A/C One copy of the version the research linked to Disorders of muscle, ligament, and fascia (PheCode 728). That is a smaller link than two copies.
C/C Two copies of the version the research linked to Disorders of muscle, ligament, and fascia (PheCode 728). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program
Verma A, Huffman JE, Rodriguez A, Conery M, Liu M, Ho YL, Kim Y, Heise DA, Guare L, Panickan VA, Garcon H, Linares F
and 59 more — show all
Costa L, Goethert I, Tipton R, Honerlaw J, Davies L, Whitbourne S, Cohen J, Posner DC, Sangar R, Murray M, Wang X, Dochtermann DR, Devineni P, Shi Y, Nandi TN, Assimes TL, Brunette CA, Carroll RJ, Clifford R, Duvall S, Gelernter J, Hung A, Iyengar SK, Joseph J, Kember R, Kranzler H, Kripke CM, Levey D, Luoh SW, Merritt VC, Overstreet C, Deak JD, Grant SFA, Polimanti R, Roussos P, Shakt G, Sun YV, Tsao N, Venkatesh S, Voloudakis G, Justice A, Begoli E, Ramoni R, Tourassi G, Pyarajan S, Tsao P, O'Donnell CJ, Muralidhar S, Moser J, Casas JP, Bick AG, Zhou W, Cai T, Voight BF, Cho K, Gaziano JM, Madduri RK, Damrauer S, Liao KP
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access

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

Disorders of muscle, ligament, and fascia (PheCode 728) (rs140064789). MyGeneLog™. https://www.mygenelog.com/variants/rs140064789

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