Standard

creatinine (minimum, inv-norm transformed)

ALMS1 · rs2140195

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

3 / 4

Its strongest genetic-study result is p = 10⁻⁶², with 2 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 117,108 African American or Afro-Caribbean individuals, 57,292 Hispanic or Latin American individuals, 6,305 East Asian ancestry individuals, 421,910 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0471 higher (95% confidence interval 0.042-0.053); p = 5 × 10⁻⁶³.

How common The A allele had a frequency of about 67% in the people studied.

Where it sits Chromosome 2, band 2p13.1 — in an intron of ALMS1.

How common each version is

AG

Korean KRGDB

A 98.4% · G 1.6%

Korean Korea4K

A 98.7% · G 1.3%

Korean Korea1K

A 98.8% · G 1.2%

Japanese ToMMo

A 98.2% · G 1.8%

Vietnamese

A 99.1% · G 0.9%

World gnomAD

A 63.6% · G 36.4%

World 1000 Genomes

A 66.1% · G 33.9%

World TOPMed

A 61.3% · G 38.7%

By ancestry gnomAD

East Asian

A 99.3% · G 0.7%

European (non-Finnish)

A 76.2% · G 23.8%

African / African American

A 31.1% · G 69.0%

South Asian

A 84.9% · G 15.1%

Admixed American (Latino)

A 63.9% · G 36.0%

Middle Eastern

A 78.6% · G 21.4%

Finnish

A 75.8% · G 24.2%

Ashkenazi Jewish

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. 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 creatinine (minimum, inv-norm transformed). 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 creatinine (minimum, inv-norm transformed). That is a smaller link than two copies.

G/G No copy of the version the research linked to creatinine (minimum, inv-norm transformed). This is the starting point the study compared everyone against.

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

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

creatinine (minimum, inv-norm transformed) (rs2140195). MyGeneLog™. https://www.mygenelog.com/variants/rs2140195

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