Standard

ADAMTS13 activity

ADAMTS13 · rs41314453

What the study found

Who was studied 3,423 European ancestry individuals; replicated in 2,025 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 21.7 lower; p = 1 × 10−63.

How common The T allele had a frequency of about 2% in the people studied.

Where it sits Chromosome 9, band 9q34.2 — a missense change in ADAMTS13.

What ClinVar records

Classification Benign/Likely benign for Upshaw-Schulman syndrome; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 7 submitters), last evaluated 2026-03-01. ClinVar record 227176 NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val)

What this is ClinVar's aggregate record for this position (as of its 2026-10-12 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

C/C No copy of the version the research linked to ADAMTS13 activity. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to ADAMTS13 activity. That is a smaller link than two copies.
T/T Two copies of the version the research linked to ADAMTS13 activity. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs41314453

What is rs41314453?

rs41314453 is a single position in the genome, in or near the ADAMTS13 gene. Published research associates it with adamts13 activity. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs41314453 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs41314453 come from?

GWAS Catalog, Blood 2015, PMID:25934476. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

ADAMTS13 activity (rs41314453). MyGeneLog™. https://www.mygenelog.com/variants/rs41314453

← See all variants