rs2032624

This is a intron variant variant in the DDX3Y 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 A
OR 20.89
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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Y chromosome haplogroups and prostate cancer in populations of European and Ashkenazi Jewish ancestry
AssociationN=7,810Wang Z. et al.(2012)· Human Genetics

Two-phase association study examining Y chromosome haplogroups and prostate cancer risk in 3,995 cases and 3,815 controls (Stage I) with replication in 1,272 European and 1,686 Ashkenazi Jewish cases. The rare E1b1b1c haplogroup showed nominally significant association with prostate cancer overall (P=0.012, OR=0.51; 95% CI 0.30-0.87) in Stage I, with meta-analysis of stages I and II revealing a nominally significant association with prostate cancer risk (P=0.010, OR=0.77; 95% CI 0.62-0.94).

Traits studied:aggressive prostate cancernon-aggressive prostate cancerprostate cancer
PubMedDOIMetascience Observatory

About DDX3Y

The protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding, and in the formation of intramolecular interactions. This protein shares high similarity to DDX3X, on the X chromosome, but a deletion of this gene is not complemented by DDX3X. Mutations in this gene result in male infertility, a reduction in germ cell numbers, and can result in Sertoli-cell only sydrome. Pseudogenes sharing similarity to both this gene and the DDX3X paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

View all DDX3Y variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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