rs17885803

This variant is located in the WRAP53 gene.

GWAS Catalog Trait Associations (1)

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

uterine fibroid

Allele T
OR 0.09
p 2.0e-17
N 709,132
Meta-analysisLarge GWAS
multi-ancestry

ClinVar annotation

Benign★★★
2 submitters1 publication
View on ClinVar →

Research that mentions this SNP (1)

Common genetic variation in TP53 and its flanking genes, WDR79 and ATP1B2, and susceptibility to breast cancer
AssociationN=8,046Montserrat Garcia‐Closas et al.(2007)· International Journal of Cancer

Case-control study of 731 Norwegian and 1,995 Polish breast cancer cases with 1,124 and 2,296 controls respectively, investigating common genetic variation in TP53 and flanking genes WDR79 and ATP1B2. No significant overall TP53 SNP associations with breast cancer risk were found, but WDR79 rs2287499 (R68G) showed increased risk (OR=1.60 for GG vs CC, p-trend=0.01). Notably, rs2287499 and rs17887200 (TP53) were associated specifically with ER-negative breast cancers (OR=1.42 and 1.48 respectively, p-trend<0.01), but not ER-positive tumors.

Traits studied:Breast cancerER-negative breast cancerER-positive breast cancer

About WRAP53

This gene encodes an essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex required for telomere synthesis. This protein is enriched in Cajal bodies, nuclear sites of RNP processing that are important for telomerase function. It interacts with dyskerin, TERT and TERC, other components of active telomerase, and with small Cajal body RNAs (scaRNAs), which are involved in modifying splicing RNAs. This mRNA also functions as a p53 antisense transcript, that regulates endogenous p53 mRNA levels and further induction of p53 protein by targeting the 5' untranslated region of p53 mRNA. Alternatively spliced transcript variants which differ only in the 5' UTR have been found for this gene. [provided by RefSeq, Mar 2011]

View all WRAP53 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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