Sensitive

Type 2 diabetes with ophthalmic manifestations (PheCode 250.23)

WFS1 · rs9457

Where this position leads

What the study found

Who was studied 11,204 African American or Afro-Caribbean cases, 103,814 African American or Afro-Caribbean controls, 5,479 Hispanic or Latin American cases, 51,558 Hispanic or Latin American controls, 459 East Asian ancestry cases, 6,108 East Asian ancestry controls, 28,561 European ancestry cases, 402,796 European ancestry controls.

The effect Each copy of the G allele shifted the measure 0.0837 lower (95% confidence interval 0.069-0.098); p = 1 × 10⁻²⁴.

How common The G allele had a frequency of about 44% in the people studied.

Where it sits Chromosome 4, band 4p16.1 — in the 3′ untranslated region of WFS1.

What ClinVar records

Classification Benign for WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6, Lung cancer, Cervical cancer; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2018-01-13. ClinVar record 349354 NM_006005.3(WFS1):c.*604G>C

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

C/C No copy of the version the research linked to Type 2 diabetes with ophthalmic manifestations (PheCode 250.23). This is the starting point the study compared everyone against.

C/G One copy of the version the research linked to Type 2 diabetes with ophthalmic manifestations (PheCode 250.23). That is a smaller link than two copies.

G/G Two copies of the version the research linked to Type 2 diabetes with ophthalmic manifestations (PheCode 250.23). That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program

Verma A, Huffman JE, Rodriguez A, Conery M, Liu M, Ho YL, Kim Y, Heise DA, Guare L, Panickan VA, Garcon H, Linares F

and 59 more — show all

Science (New York, N.Y.) · 2024 · PMID 39024449 · open access

Questions about rs9457

What is rs9457?

rs9457 is a single position in the genome, in or near the WFS1 gene. Published research associates it with type 2 diabetes with ophthalmic manifestations (phecode 250.23). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs9457 linked to?

On MyGeneLog this position is linked to Type 2 Diabetes. The research behind each link, and its sources, are set out on that condition page.

Does having rs9457 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 rs9457 come from?

GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. 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.

Type 2 diabetes with ophthalmic manifestations (PheCode 250.23) (rs9457). MyGeneLog™. https://www.mygenelog.com/variants/rs9457

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