rs6694978
This is a intron variant variant in the SETDB1 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.
aspartate aminotransferase measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.03
p 3.0e-14
N 354,541
Major Consortium StudyLarge GWAS
multi-ancestry
glucose-dependent insulinotropic peptide measurement
Meeks KAC et al. “Genome-wide analyses of multiple obesity-related cytokines and hormones informs biology of cardiometabolic traits.” Genome Medicine 13(1):156 (2021)
Allele T
OR 0.94
p 3.0e-8
N 2,203
Large GWAS
multi-ancestry
About SETDB1
This gene encodes a histone methyltransferase which regulates histone methylation, gene silencing, and transcriptional repression. This gene has been identified as a target for treatment in Huntington Disease, given that gene silencing and transcription dysfunction likely play a role in the disease pathogenesis. Alternatively spliced transcript variants of this gene have been described.[provided by RefSeq, Jun 2011]
View all SETDB1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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