rs931127

This is a regulatory region variant variant in the SIPA1 gene.

GWAS Catalog Trait Associations (1)

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

level of serine protease inhibitor Kazal-type 6 in blood

Allele A
OR 0.04
p 2.0e-12
N 47,745
Large GWAS
European

Research that mentions this SNP (3)

A common and functional gene variant in the vascular endothelial growth factor a predicts clinical outcome in early‐stage breast cancer
ReviewGudrun Absenger et al.(2013)· Molecular Carcinogenesis

This document is a comprehensive collection of ~1,200 cancer-related research abstracts and summaries published in various journals (2013), covering clinical trials, pharmacogenomic studies, and mutation analyses across multiple cancer types including colorectal, breast, lung, lymphoma, and other malignancies. The collection documents associations between genetic variants (SNPs and somatic mutations), gene expression patterns, and cancer treatment outcomes, including studies on KRAS, EGFR, TP53, BRAF, and pharmacogenomic variants like CYP3A4 and UGT1A1.

Traits studied:Acute myeloid leukemiaBladder cancerBreast cancerChemotherapy responseChronic lymphocytic leukemiaColorectal cancerDisease-free survivalEsophageal cancerFollicular lymphomaGallbladder cancerGlioblastomaHead and neck cancerLymphomaMyelodysplastic syndromesNon-small cell lung cancer (NSCLC)Overall survivalPrimary mediastinal B-cell lymphomaProgression-free survivalProstate cancerRenal cell carcinoma
Sipa1 promoter polymorphism predicts risk and metastasis of lung cancer in Chinese
ReviewChenli Xie et al.(2013)· Molecular Carcinogenesis

This is a comprehensive journal compilation containing multiple oncology and pharmacogenomics studies published in 2013 across various journals. The collection includes 60+ papers covering cancer treatment outcomes, genetic polymorphisms predicting chemotherapy response and survival, pharmacogenetic variants in drug metabolism and DNA repair genes, and prognostic biomarkers in various cancer types including breast, lung, colorectal, hematologic malignancies, and others. Key findings include associations of XRCC1 variants (rs915927, rs76507, rs2854501, rs2854509, rs3213255) with bladder cancer chemotherapy survival, ABCG2 rs2725264 with lung cancer overall survival (HR 3.22), SLCO1B1 rs4149056 with methotrexate pharmacokinetics, MTHFR rs1801131 with acute lymphoblastic leukemia outcome, and ABCC3/GSTM variants with acute myeloid leukemia survival.

Traits studied:Acute lymphoblastic leukemiaAcute myeloid leukemiaBladder cancerBreast cancerChronic lymphocytic leukemiaChronic myeloid leukemiaChronic myelomonocytic leukemiaColorectal cancerFollicular lymphomaGastric cancerGastrointestinal stromal tumorsGlioblastomaHepatocellular carcinomaHodgkin lymphomaLung cancerMultiple myelomaMyelodysplastic syndromesMyxofibrosarcomasNon-small cell lung cancerPrimary mediastinal B-cell lymphomaProstate cancer
Genetic variation in SIPA1 in relation to breast cancer risk and survival after breast cancer diagnosis
AssociationN=9,174Mia M. Gaudet et al.(2009)· International Journal of Cancer

A case-control study of 4,137 breast cancer cases and 4,553 controls from Poland and Britain examined three SIPA1 polymorphisms (rs931127, rs3741378, rs746429) for associations with breast cancer risk and survival. No significant associations were found between SIPA1 genetic variation and breast cancer risk (ORs 0.98–1.03) or overall survival (HRs 0.90–1.04), contradicting previous findings suggesting an association with aggressive tumor features and metastatic potential.

Traits studied:Breast cancer (stratified by tumor stage, grade, estrogen receptor status, lymph node involvement)Breast cancer overall survivalBreast cancer risk

About SIPA1

The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterized to date. [provided by RefSeq, Jul 2008]

View all SIPA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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