rs7203560
This is a intron variant variant in the NPRL3 gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
mean corpuscular hemoglobin
Li J et al. “GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.” Human Molecular Genetics 22(7):1457-64 (2013)
Allele G
OR 1.25
p 5.0e-62
N 14,177
Large GWAS
multi-ancestry
Hodonsky CJ et al. “Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.” Plos Genetics 13(4):e1006760 (2017)
Allele G
OR 1.02
p 8.0e-12
N 12,502
Large GWAS
Hispanic or Latin American
erythrocyte volume
Li J et al. “GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.” Human Molecular Genetics 22(7):1457-64 (2013)
Allele G
OR 2.56
p 8.0e-43
N 14,177
Large GWAS
multi-ancestry
mean corpuscular hemoglobin concentration
Li J et al. “GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.” Human Molecular Genetics 22(7):1457-64 (2013)
Allele G
OR 0.53
p 1.0e-33
N 14,177
Large GWAS
multi-ancestry
erythrocyte count
Li J et al. “GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.” Human Molecular Genetics 22(7):1457-64 (2013)
Allele G
OR 0.15
p 2.0e-23
N 14,177
Large GWAS
multi-ancestry
hemoglobin measurement
Kowalski MH et al. “Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations.” Plos Genetics 15(12):e1008500 (2019)
Allele G
OR 0.18
p 3.0e-22
N 43,187
Major Consortium StudyLarge GWAS
multi-ancestry
Li J et al. “GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.” Human Molecular Genetics 22(7):1457-64 (2013)
Allele G
OR 0.20
p 2.0e-8
N 14,177
Large GWAS
multi-ancestry
sickle cell disease
Milton JN et al. “Genetic determinants of haemolysis in sickle cell anaemia.” British Journal of Haematology 161(2):270-8 (2013)
Allele C
OR 0.44
p 2.0e-9
N 1,117
Large GWAS
African American or Afro-Caribbean, African unspecified
About NPRL3
Predicted to enable GTPase activator activity. Involved in cellular response to amino acid starvation and negative regulation of TORC1 signaling. Part of GATOR1 complex. Is active in lysosomal membrane. Implicated in familial focal epilepsy with variable foci 3. [provided by Alliance of Genome Resources, Jul 2025]
View all NPRL3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…