rs1036819

This is a intron variant variant in the ZFAT gene.

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GWAS Catalog Trait Associations (1)

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

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Research that mentions this SNP (2)

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Identification of pelvic organ prolapse risk susceptibility gene SNP locus in Xinjiang women
AssociationN=196Aibibuhan· Abulaizi et al.(2020)· International Urogynecology Journal

Candidate gene association study in Xinjiang women identifying pelvic organ prolapse (POP) susceptibility loci. Among 88 POP cases and 108 controls, ESR1 rs17847075 (OR=2.738, P=0.041) and rs2234693 (OR=2.99, P=0.024), ZFAT rs1036819 (OR=10.286, P=0.036), and protective FBLN5 rs12589592 (OR=0.111, P=0.029) showed significant associations with POP risk.

Traits studied:Pelvic organ prolapse
PubMedDOIMetascience Observatory
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Collagen XVIII and LOXL-4 polymorphisms in women with and without advanced pelvic organ prolapse
AssociationN=532Renata G. M. dos Santos et al.(2018)· International Urogynecology Journal

A case-control study of 532 postmenopausal Brazilian women examining rs2236479 (COL18A1) and rs2862296 (LOXL-4) polymorphisms for association with advanced pelvic organ prolapse (POP). No significant associations were found between either polymorphism and POP (COL18A1 AA: OR=0.69, 95% CI 0.41-1.17; LOXL-4 GG: OR=0.76, 95% CI 0.43-1.35). Age (OR=1.10), number of vaginal deliveries (OR=1.66), and family history (OR=2.55) were identified as independent risk factors for POP.

Traits studied:Pelvic organ prolapseUrinary incontinence
PubMedDOIMetascience Observatory

About ZFAT

This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]

View all ZFAT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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