rs835574

This variant is located in the NOTCH2 gene.

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GWAS Catalog Trait Associations (4)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

leukocyte quantity

Hu Y et al. “Multi-ethnic genome-wide association analyses of white blood cell and platelet traits in the Population Architecture using Genomics and Epidemiology (PAGE) study.” Bmc Genomics 22(1):432 (2021)

Allele T

OR 0.25

p 3.0e-77

N 16,201

Large GWAS

African American or Afro-Caribbean

monocyte count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele C

OR 0.12

p 2.0e-51

N 82,924

Major Consortium StudyLarge GWAS

African American or Afro-Caribbean

myeloid leukocyte count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele T

OR —

p 4.0e-31

N 746,667

Large GWAS

multi-ancestry

diabetes mellitus, Drugs used in diabetes use measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele C

OR 0.06

p 2.0e-11

N 404,034

Major Consortium StudyLarge GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

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Research that mentions this SNP (1)

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Prognostic value of Notch receptors in postsurgical patients with hepatitis B virus‐related hepatocellular carcinoma

AssociationN=465Tingdong Yu et al.(2017)· Cancer Medicine

Candidate gene study of 465 HBV-related hepatocellular carcinoma (HCC) patients examined 19 SNPs in Notch pathway receptors (NOTCH1-4) using Sanger sequencing. Four SNPs significantly associated with overall survival: rs1043996 (NOTCH3), rs422951 (NOTCH4), rs520692 (NOTCH4), and rs3830041 (NOTCH4). Notch3 mRNA was significantly elevated in tumors (P<0.0001) and higher expression predicted poorer overall and recurrence-free survival.

Traits studied:Hepatocellular carcinoma (HBV-related)Overall survivalRecurrence-free survival

PubMed DOI Metascience Observatory

About NOTCH2

This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]