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Childhood steroid-sensitive nephrotic syndrome

NPHS1 · rs2285450

Where this position leads

Condition: Childhood Steroid-Sensitive Nephrotic Syndrome

rs2285450 Condition: Childhood Steroid-Sensitive Nephrotic Syndrome Childhood Steroid-Sensitive Nephrot… Condition rs2285450 rs2285450 NPHS1

What the study found

Who was studied 987 Japanese ancestry cases, 3,206 Japanese ancestry controls; replicated in 249 Korean ancestry cases, 181 South Asian ancestry cases, 207 African ancestry cases, 307 European ancestry cases, 27 Hispanic cases, 85 Maghrebian ancestry cases, 3805 Korean ancestry controls, 8,255 South Asian ancestry controls, 5,657 African ancestry controls, 35,913 European ancestry controls, 5,789 Hispanic controls, 261 Moroccan ancestry controls.

The effect Each copy of the A allele carried 1.88 times the odds of Childhood steroid-sensitive nephrotic syndrome (95% confidence interval 1.68-2.11); p = 7 × 10−28.

Where it sits Chromosome 19, band 19q13.12 — a synonymous change in NPHS1.

What ClinVar records

Classification Benign for Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 8 submitters), last evaluated 2026-02-04. ClinVar record 259492 NM_004646.4(NPHS1):c.294C>T (p.Ile98=)

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

A/A Two copies of the version the research linked to Childhood steroid-sensitive nephrotic syndrome. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Childhood steroid-sensitive nephrotic syndrome. That is a smaller link than two copies.
G/G No copy of the version the research linked to Childhood steroid-sensitive nephrotic syndrome. This is the starting point the study compared everyone against.
Source
Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome
Jia X, Yamamura T, Gbadegesin R, McNulty MT, Song K, Nagano C, Hitomi Y, Lee D, Aiba Y, Khor SS, Ueno K, Kawai Y
and 33 more — show all
Nagasaki M, Noiri E, Horinouchi T, Kaito H, Hamada R, Okamoto T, Kamei K, Kaku Y, Fujimaru R, Tanaka R, Shima Y, Baek J, Kang HG, Ha IS, Han KH, Yang EM, Abeyagunawardena A, Lane B, Chryst-Stangl M, Esezobor C, Solarin A, Dossier C, Deschênes G, Vivarelli M, Debiec H, Ishikura K, Matsuo M, Nozu K, Ronco P, Cheong HI, Sampson MG, Tokunaga K, Iijima K
Research Consortium on Genetics of Childhood Idiopathic Nephrotic Syndrome in Japan · Korean Consortium of Hereditary Renal Diseases in Children · Midwest Pediatric Nephrology Consortium (Genetics of Nephrotic Syndrome Study Group) · NEPHROVIR
Kidney international · 2020 · PMID 32554042

Questions about rs2285450

What is rs2285450?

rs2285450 is a single position in the genome, in or near the NPHS1 gene. Published research associates it with childhood steroid-sensitive nephrotic syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2285450 linked to?

On MyGeneLog this position is linked to Childhood Steroid-Sensitive Nephrotic Syndrome. The research behind each link, and its sources, are set out on that condition page.

Does having rs2285450 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 rs2285450 come from?

GWAS Catalog, Kidney international 2020, PMID:32554042. 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.

Childhood steroid-sensitive nephrotic syndrome (rs2285450). MyGeneLog™. https://www.mygenelog.com/variants/rs2285450

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