rs9914988

This variant is located in the ERAL1 gene.

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GWAS Catalog Trait Associations (3)

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

reticulocyte count

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele A
OR 0.05
p 2.0e-29
N 170,761
Large GWAS
European

mean corpuscular hemoglobin concentration

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 G
OR 0.04
p 1.0e-23
N 126,151
Large GWAS
East Asian

HbA1c measurement

Chen J et al. “The trans-ancestral genomic architecture of glycemic traits.” Nature Genetics 53(6):840-860 (2021)
Allele A
OR 0.01
p 5.0e-17
N 146,806
Large GWAS
European
Wheeler E et al. “Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.” Plos Medicine 14(9):e1002383 (2017)
Allele A
OR 0.01
p 3.0e-11
N 88,355
Meta-analysisLarge GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →
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Research that mentions this SNP (1)

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Association of glycosylated hemoglobin with the gene encoding CDKAL1 in the Korean Association Resource (KARE) study
Meta-analysisN=159,940Jihye Ryu et al.(2012)· Human Mutation

Transethnic genome-wide meta-analysis in 159,940 individuals identified 60 common genetic variants associated with HbA1c levels. Variants were classified as glycemic (19), erythrocytic (22), or unclassified (19) based on their biological mechanisms. Glycemic variants were associated with higher type 2 diabetes risk (OR=1.05 per allele, p=3×10⁻²⁹), while erythrocytic variants were not. The X-linked G6PD G202A variant showed a large effect in African Americans (0.81% HbA1c reduction per allele) but minimal effects in other ancestries, potentially causing 2% of African American T2D cases to remain undiagnosed when using HbA1c screening.

Traits studied:2-hour glucoseErythrocytic traitsFasting glucoseGlycemic traitsHemoglobin A1c (HbA1c)Type 2 diabetes
PubMedDOIMetascience Observatory

About ERAL1

The protein encoded by this gene is a GTPase that localizes to the mitochondrion. The encoded protein binds to the 3' terminal stem loop of 12S mitochondrial rRNA and is required for proper assembly of the 28S small mitochondrial ribosomal subunit. Deletion of this gene has been shown to cause mitochondrial dysfunction, growth retardation, and apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

View all ERAL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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