rs151181
This is a intron variant variant in the CLN3 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
bipolar disorder, body mass index
Pisanu C et al. “Evidence that genes involved in hedgehog signaling are associated with both bipolar disorder and high BMI.” Translational Psychiatry 9(1):315 (2019)
Allele T
OR 0.03
p 3.0e-19
N 373,864
Large GWAS
European
lean body mass
Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele C
OR 0.01
p 4.0e-14
N 337,739
Large GWAS
European
protein measurement
Hartley AE et al. “Deciphering tissue-specific protein regulation for insights into cardiometabolic disease.” Molecular Metabolism 104:102314 (2026)
Allele G
OR —
p 6.0e-12
N 272
Small GWAS
European
Crohn's disease
Franke A et al. “Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.” Nature Genetics 42(12):1118-25 (2010)
Allele G
OR 1.07
p 2.0e-11
N 21,389
Meta-analysisLarge GWAS
European
About CLN3
This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
View all CLN3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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