Links from this page to related variants, conditions, drugs and topics are not included for automated readers. Those connections are the Gene Knowledge Graph and are licensed as data: https://www.mygenelog.com/license

Standard

Alkaline phosphatase levels

GPLD1 · rs2817207

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−48, 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 38,000 South Asian ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.112 higher (95% confidence interval 0.096-0.128); p = 4 × 10−49.

Where it sits Chromosome 6, band 6p22.3 — in an intron of GPLD1.

How common each version is

AG
Korean KRGDB
A 20.0% · G 80.0%
Korean Korea4K
A 19.7% · G 80.3%
Korean Korea1K
A 19.2% · G 80.8%
Japanese ToMMo
A 19.7% · G 80.3%
Vietnamese
A 17.6% · G 82.4%
World gnomAD
A 31.6% · G 68.4%
World 1000 Genomes
A 27.2% · G 72.8%
World TOPMed
A 30.9% · G 69.1%

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 Two copies of the version the research linked to Alkaline phosphatase levels. 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 Alkaline phosphatase levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to Alkaline phosphatase levels. This is the starting point the study compared everyone against.
Source

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

Alkaline phosphatase levels (rs2817207). MyGeneLog™. https://www.mygenelog.com/variants/rs2817207

← See all variants