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Estimated glomerular filtration rate (creatinine)

VPS54 · rs35002211

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 = 10−8, 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 1,205,871 European ancestry individuals, 168,300 East Asian ancestry individuals, 63,553 African ancestry individuals, 23,509 Hispanic or Latin American individuals, 22,103 African American individuals, 21,791 Central Asian or South Asian ancestry individuals, 1,502 Middle Eastern ancestry individuals, 939 other admixed ancestry individuals, 602 Native American ancestry individuals, 150 Asian ancestry individuals, 339 individuals.

The effect Each copy of the G allele shifted the measure 5.63 z score higher; p = 2 × 10−8.

How common The G allele had a frequency of about 18% in the people studied.

Where it sits Chromosome 2, band 2p14 — in an intron of VPS54.

How common each version is

AG
Korean Korea4K
A 91.0% · G 8.9%
Korean Korea1K
A 91.6% · G 8.3%
Japanese ToMMo
A 94.0% · G 6.0%
Vietnamese
A 94.4% · G 5.6%
World gnomAD
A 84.8% · G 15.2%
World 1000 Genomes
A 87.2% · G 12.8%
World TOPMed
A 85.0% · G 15.0%

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.

What each result means

A/A No copy of the version the research linked to Estimated glomerular filtration rate (creatinine). This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Estimated glomerular filtration rate (creatinine). That is a smaller link than two copies.
G/G Two copies of the version the research linked to Estimated glomerular filtration rate (creatinine). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source
Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease
Liu H, Doke T, Guo D, Sheng X, Ma Z, Park J, Vy HMT, Nadkarni GN, Abedini A, Miao Z, Palmer M, Voight BF
and 5 more — show all
Li H, Brown CD, Ritchie MD, Shu Y, Susztak K
Nature genetics · 2022 · PMID 35710981

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

Estimated glomerular filtration rate (creatinine) (rs35002211). MyGeneLog™. https://www.mygenelog.com/variants/rs35002211

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