rs517339
This is a intron variant variant in the ERGIC1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
amyotrophic lateral sclerosis
van Rheenen W et al. “Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.” Nature Genetics 53(12):1636-1648 (2021)
Allele C
OR 0.06
p 6.0e-9
N 152,268
Large GWAS
multi-ancestry
frontotemporal dementia
Chen K et al. “Identifying risk loci for FTD and shared genetic component with ALS: A large-scale multitrait association analysis.” Neurobiology of Aging 134:28-39 (2024)
Allele C
OR 0.03
p 1.0e-8
N 12,928
Large GWAS
European
About ERGIC1
This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. [provided by RefSeq, Jul 2008]
View all ERGIC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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