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 = 10−7, 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 50,251 African American cases, 103,909 African American controls, 88,109 East Asian ancestry cases, 339,395 East Asian ancestry controls, 242,283 European ancestry cases, 1,569,734 European ancestry controls, 29,375 Hispanic cases, 59,368 Hispanic controls, 1,602 South African ancestry cases, 976 South African ancestry controls, 16,832 South Asian ancestry cases, 33,767 South Asian ancestry controls.
The effect
The reported allele is T; the catalogue records no effect size
; p = 4 × 10−8.
How common The T allele had a frequency of about 52% in the people studied.
Where it sits Chromosome 16, band 16p11.2 — in an intron of KAT8.
How common each version is
CT
KoreanKRGDB
C 92.3% · T 7.7%
KoreanKorea4K
C 92.8% · T 7.2%
Japanese ToMMo
C 90.7% · T 9.3%
Vietnamese
C 86.1% · T 13.9%
World gnomAD
C 41.5% · T 58.5%
World 1000 Genomes
C 47.4% · T 52.6%
World TOPMed
C 43.5% · T 56.5%
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
C/CNo copy of the version the research linked to Type 2 diabetes. This is the starting point the study compared everyone against.
C/TOne copy of the version the research linked to Type 2 diabetes. That is a smaller link than two copies.
T/TTwo copies of the version the research linked to Type 2 diabetes. That is the strongest link of the three results. A link in a study is not a diagnosis.
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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
Type 2 diabetes (rs1978487). MyGeneLog™. https://www.mygenelog.com/variants/rs1978487