rs9303542

This is a intron variant variant in the SKAP1 gene.

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GWAS Catalog Trait Associations (1)

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

malignant epithelial tumor of ovary

Kuchenbaecker KB et al. “Identification of six new susceptibility loci for invasive epithelial ovarian cancer.” Nature Genetics 47(2):164-71 (2015)
Allele G
OR 1.14
p 5.0e-15
N 13,491
Large GWAS
European
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Research that mentions this SNP (2)

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Genetic overlap between endometriosis and endometrial cancer: evidence from cross‐disease genetic correlation and GWAS meta‐analyses
Meta-analysisN=11,930Jodie N. Painter et al.(2018)· Cancer Medicine

Cross-disease GWAS meta-analysis of endometriosis and endometrial cancer identified moderate genetic correlation (rg=0.23, P=9.3×10⁻³) and significant SNP pleiotropy between the two diseases. Meta-analysis of 3,194 endometriosis cases and 5,330 endometrial cancer cases (7 datasets) identified 13 replicated loci, with rs2475335 in PTPRD showing genomewide significance (P=4.9×10⁻⁸, OR=1.11, 95% CI=1.07-1.15). PTPRD acts in the STAT3 pathway implicated in both diseases.

Traits studied:Endometrial cancerEndometriosis
PubMedDOIMetascience Observatory
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Ovarian cancer susceptibility alleles and risk of ovarian cancer inBRCA1andBRCA2mutation carriers
AssociationN=14,351Ramus SJ et al.(2012)· Human Mutation

This multi-stage genome-wide association study in 11,705 BRCA1 mutation carriers identified three novel cancer risk-modifying loci: rs2290854 at 1q32 associated with breast cancer (HR=1.14), and rs17631303 (HR=1.27) and rs4691139 (HR=1.20) at 17q21.31 and 4q32.3 respectively associated with ovarian cancer. The 4q32.3 locus showed BRCA1-specific associations. These findings enable improved absolute risk estimation for BRCA1 carriers, with estimated breast cancer lifetime risks ranging from 28-50% for the lowest-risk 5% to 81-100% for the highest-risk 5%.

Traits studied:Breast cancerOvarian cancer
PubMedDOIMetascience Observatory

About SKAP1

This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N-terminal region followed by a PH domain and C-terminal SH3 domain. Along with the adhesion and degranulation-promoting adaptor protein, the encoded protein plays a critical role in inside-out signaling by coupling T-cell antigen receptor stimulation to the activation of integrins. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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