COL1A2 · rs201076141
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
There is no record yet to score this position by (a ClinVar disease classification or a genome-wide significant study). That is not the same as weak evidence.
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 ClinVar records
Classification
Uncertain significance for Osteogenesis imperfecta; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2021-05-31.
ClinVar record 1702000 NM_000089.4(COL1A2):c.71-6C>T
Classification
Conflicting classifications of pathogenicity for Osteogenesis imperfecta with normal sclerae, dominant form; criteria provided, conflicting classifications (1 of 4 stars, 2 submitters), last evaluated 2020-03-26.
ClinVar record 930893 NM_000089.4(COL1A2):c.71-6C>A
Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.
What this is ClinVar's aggregate record for this position (as of its 2026-10-19 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.
Source: ClinVar VCV000930893, criteria provided, conflicting classifications
rs201076141 is a single position in the genome, in or near the COL1A2 gene. Published research associates it with osteogenesis imperfecta with normal sclerae, dominant form. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
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.
ClinVar VCV000930893, criteria provided, conflicting classifications. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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
Osteogenesis imperfecta with normal sclerae, dominant form (rs201076141). MyGeneLog™. https://www.mygenelog.com/variants/rs201076141