rs76742217
This is a intron variant variant in the RCL1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Pottier C et al. “Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.” Nature Communications 16(1):3914 (2025)
Allele A
OR 9.31
p 2.0e-8
N 3,441
Large GWAS
European
About RCL1
Predicted to enable RNA endonuclease activity. Involved in ribosomal small subunit biogenesis. Part of small-subunit processome. [provided by Alliance of Genome Resources, Jul 2025]
View all RCL1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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