rs2032631

This variant is located in the KDM5D 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 24.23
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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Association of Y chromosome haplogroup I with HIV progression, and HAART outcome
AssociationN=3,490Efe Sezgin et al.(2009)· Human Genetics

This association study examined Y chromosome haplogroup effects on HIV progression and HAART response in 3,490 subjects (2,292 European Americans, 1,233 African Americans) from five HIV cohorts. Y chromosome haplogroup I (Y-I) in European Americans showed significantly faster AIDS progression with relative hazards of 2.05-2.84 (p=0.001-0.007) and longer time to viral suppression on HAART (RH=0.62, p=0.001). These associations remained significant after false-discovery-rate correction and were independent of known autosomal AIDS restriction genes. No significant associations were found in African Americans.

Traits studied:AIDS progressionAIDS-defining illnessCD4 depletionHAART responseHIV infectionViral load set point
PubMedDOIMetascience Observatory

About KDM5D

This gene encodes a protein containing zinc finger domains. A short peptide derived from this protein is a minor histocompatibility antigen which can lead to graft rejection of male donor cells in a female recipient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

View all KDM5D variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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