rs13137

This variant is located in the VMP1 gene.

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Research that mentions this SNP (2)

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Evaluation of SNPs inmiR-146a,miR196a2andmiR-499as low-penetrance alleles in German and Italian familial breast cancer cases
AssociationN=1,800Irene Catucci et al.(2010)· Human Mutation

This PhD thesis presents a comprehensive study of microRNA (miRNA) SNPs and their association with breast cancer risk in Australian Caucasian populations. The study identified three key findings: rs2910164 in MIR146A showed significant association (p=0.03 and p=0.00013 in two populations); rs353291 in MIR145 showed significant differences in allele frequencies (p=0.041 and p=0.023); and rs4284505/rs7336610 in the MIR17HG cluster showed significant association with protective effect (OR=0.75, 95% CI: 0.60-0.94, p=0.012).

Traits studied:Breast cancerBreast cancer risk
PubMedDOIMetascience Observatory
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Single nucleotide polymorphisms in miRNA binding sites and miRNA genes as breast/ovarian cancer risk modifiers in Jewish high‐risk women
AssociationN=1,425Tair Kontorovich et al.(2010)· International Journal of Cancer

This PhD thesis presents three case-control association studies of microRNA SNPs in Australian Caucasian breast cancer populations. Study 1 found rs2910164 (MIR146A) significantly associated with sporadic breast cancer risk (OR: 1.774; 95% CI: 1.402-2.237; p=0.000001 combined). Study 2 identified rs353291 (MIR145) as associated with breast cancer (allelic p=0.041 GRC-BC, p=0.023 GU-CCQ BB; OR: 1.37 and 1.25 respectively). Study 3 found rs4284505 (MIR17HG) associated with reduced breast cancer risk (p=0.01 GRC-BC, p=0.03 GU-CCQ BB; OR: 0.70 and 0.79), with the rs4284505/rs7336610 haplotype AC conferring 25% reduced risk (OR: 0.75; 95% CI: 0.60-0.94; p=0.012).

Traits studied:Breast cancerSporadic breast cancer susceptibility
PubMedDOIMetascience Observatory

About VMP1

This gene encodes a transmembrane protein that plays a key regulatory role in the process of autophagy. The ectopic overexpression of the encoded protein in cultured cells triggers autophagy even under nutrient-rich conditions. This gene is overexpressed in pancreatitis affected acinar cells where the encoded protein mediates sequestration and degradation of potentially deleterious activated zymogen granules in a process termed, zymophagy. [provided by RefSeq, Jul 2016]

View all VMP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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