Sensitive

Type 1 diabetes mellitus 20

HNF1A · rs483353044

Where this position leads

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.

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 ClinVar records

Classification Benign for Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young, HNF1A-related disorder; reviewed by expert panel (3 of 4 stars, 9 submitters), last evaluated 2022-12-01. ClinVar record 135665 NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys)

Classification Pathogenic for Type 1 diabetes mellitus 20; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2021-06-15. ClinVar record 1803148 NM_000545.8(HNF1A):c.1522G>T (p.Glu508Ter)

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.

What each result means

G/G No copy of the version ClinVar lists as disease-causing for Type 1 diabetes mellitus 20. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV001803148, criteria provided, single submitter)

G/T One copy of the version ClinVar lists as disease-causing for Type 1 diabetes mellitus 20. Some conditions need only one copy; for others, one copy makes a person a carrier who is usually healthy but can pass it on. A genetic counsellor can say which applies. So far only one lab has made this call, so it may change. (ClinVar VCV001803148, criteria provided, single submitter)

T/T Two copies of the version ClinVar lists as disease-causing for Type 1 diabetes mellitus 20. A result like this should be confirmed by a medical genetic test and talked through with a doctor; consumer DNA files can misread rare variants. So far only one lab has made this call, so it may change. (ClinVar VCV001803148, criteria provided, single submitter)

Source: ClinVar VCV001803148, criteria provided, single submitter

Questions about rs483353044

What is rs483353044?

rs483353044 is a single position in the genome, in or near the HNF1A gene. Published research associates it with type 1 diabetes mellitus 20. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs483353044 linked to?

On MyGeneLog this position is linked to Type 1 Diabetes. The research behind each link, and its sources, are set out on that condition page.

Does having rs483353044 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 rs483353044 come from?

ClinVar VCV001803148, criteria provided, single submitter. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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 1 diabetes mellitus 20 (rs483353044). MyGeneLog™. https://www.mygenelog.com/variants/rs483353044

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