rs4963153

This variant is located in the SLC25A22 gene.

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GWAS Catalog Trait Associations (4)

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

corneal resistance factor

He W et al. “Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging.” Jama Ophthalmology 140(6):568-576 (2022)
Allele A
OR 0.04
p 4.0e-31
N 123,734
Major Consortium StudyLarge GWAS
European
Jiang X et al. “Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants.” Communications Biology 3(1):762 (2020)
Allele A
OR 0.09
p 2.0e-24
N 76,029
Large GWAS
European

intraocular pressure measurement

Gao XR et al. “Genome-wide association analyses identify new loci influencing intraocular pressure.” Human Molecular Genetics 27(12):2205-2213 (2018)
Allele G
OR 0.15
p 2.0e-24
N 115,486
Large GWAS
European

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele G
OR 0.01
p 1.0e-9
N 1,122,049
Large GWAS
European
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele G
OR 0.01
p 2.0e-8
N 694,649
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication

Early myoclonic encephalopathy; not provided

View on ClinVar →

About SLC25A22

This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]

View all SLC25A22 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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