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
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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 = 10−9, with 12 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 298,142 European ancestry individuals, 6,635 African American individuals, 1,449 Filipino individuals, 420 Turkish individuals, 365 Moroccan individuals, 395 Surinamese individuals, 1,052 Afro-Caribbean individuals, 612 Hispanic individuals, 1,180 Thai individuals, 840 Chinese ancestry individuals, 10,133 individuals.
The effect
Each copy of the A allele shifted the measure 0.0157 higher (95% confidence interval 0.011-0.021); p = 2 × 10−9.
How common The A allele had a frequency of about 55% in the people studied.
Where it sits Chromosome 11, band 11p15.4 — in an intron of KCNQ1.
How common each version is
AG
KoreanKRGDB
A 68.8% · G 31.2%
KoreanKorea4K
A 68.3% · G 31.7%
Japanese ToMMo
A 64.2% · G 35.8%
World gnomAD
A 55.4% · G 44.6%
World 1000 Genomes
A 56.4% · G 43.6%
World TOPMed
A 54.8% · G 45.2%
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/ATwo copies of the version the research linked to Birth weight. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/GOne copy of the version the research linked to Birth weight. That is a smaller link than two copies.
G/GNo copy of the version the research linked to Birth weight. This is the starting point the study compared everyone against.
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Quoting this page
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