rs1865680

This variant is located in the TBL1Y gene.

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GWAS Catalog Trait Associations (1)

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

autism

Alsubaie LM et al. “Risk Y-haplotypes and pathogenic variants of Arab-ancestry boys with autism by an exome-wide association study.” Molecular Biology Reports 47(10):7623-7632 (2020)
Allele G
OR 24.62
p 2.0e-8
N 90
Small GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
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Research that mentions this SNP (1)

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Single nucleotide polymorphism typing with massively parallel sequencing for human identification
MethodsN=4Seung Bum Seo et al.(2013)· International Journal of Legal Medicine

This study evaluated the Ion AmpliSeq HID SNP panel (103 autosomal SNPs and 33 Y-SNPs) using Ion Torrent PGM sequencing for forensic human identification. With 10 ng template DNA, all SNPs were detected with high concordance to Illumina GAIIx results, though rs1029047 showed genotyping errors due to adjacent homopolymic stretches. The paper demonstrates that massively parallel sequencing can successfully genotype large SNP batteries with high accuracy, even with degraded DNA down to 1 ng.

Traits studied:forensic identificationhuman identification
PubMedDOIMetascience Observatory

About TBL1Y

The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene is highly similar to TBL1X gene in nucleotide sequence and protein sequence, but the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

View all TBL1Y variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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