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Standard

Estimated glomerular filtration rate (creatinine)

near CYCSP42 · rs6517422

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

2 / 4

Its strongest genetic-study result is p = 10−23, with 4 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 A allele shifted the measure 9.99 z score lower; p = 2 × 10−23.

How common The A allele had a frequency of about 29% in the people studied.

Where it sits Chromosome 21, band 21q21.1 — between genes, 69 kb from CYCSP42.

How common each version is

AG

By ancestry gnomAD

East Asian
A 28.9% · G 71.1%
European (non-Finnish)
A 29.8% · G 70.2%
African / African American
A 30.8% · G 69.2%
South Asian
A 22.8% · G 77.2%
Admixed American (Latino)
A 21.8% · G 78.2%
Middle Eastern
A 34.4% · G 65.6%
Finnish
A 22.0% · G 78.0%
Ashkenazi Jewish
A 25.2% · G 74.8%

The share of all copies of this position that are each version. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

A/A 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.
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 No copy of the version the research linked to Estimated glomerular filtration rate (creatinine). This is the starting point the study compared everyone against.
DNA databases also record a third, rare version at this position, carried on fewer than one in a hundred copies of the DNA. The three results above cover the two common versions only.
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) (rs6517422). MyGeneLog™. https://www.mygenelog.com/variants/rs6517422

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