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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
3 / 4
Its strongest genetic-study result is p = 10−111, with 10 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 7,177 European ancestry cases, 1,059,740 European ancestry controls.
The effect
Each copy of the T allele shifted the measure 0.214 higher (95% confidence interval 0.2-0.23); p = 1 × 10−111.
How common The T allele had a frequency of about 88% in the people studied.
Where it sits Chromosome 10, band 10q22.1 — in an intron of TSPAN15.
How common each version is
CT
By ancestry gnomAD
East Asian
C 0.6% · T 99.4%
European (non-Finnish)
C 12.0% · T 88.0%
African / African American
C 2.5% · T 97.5%
South Asian
C 4.6% · T 95.4%
Admixed American (Latino)
C 9.4% · T 90.6%
Middle Eastern
C 7.5% · T 92.5%
Finnish
C 10.6% · T 89.4%
Ashkenazi Jewish
C 11.8% · T 88.2%
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
C/CNo copy of the version the research linked to Venous thromboembolism. This is the starting point the study compared everyone against.
C/TOne copy of the version the research linked to Venous thromboembolism. That is a smaller link than two copies.
T/TTwo copies of the version the research linked to Venous thromboembolism. That is the strongest link of the three results. A link in a study is not a diagnosis.
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.
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Quoting this page
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