rs10993994
| Orientation | minus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | |
| (C;T) | 1.5 | increased prostate cancer risk (odds ratio 1.2) |
| (T;T) | 2 | increased prostate cancer risk (odds ratio 1.6) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 46046326 |
| Gene | MSMB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10993994 |
| dbSNP (classic) | rs10993994 |
| ClinGen | rs10993994 |
| ebi | rs10993994 |
| HLI | rs10993994 |
| Exac | rs10993994 |
| Gnomad | rs10993994 |
| Varsome | rs10993994 |
| LitVar | rs10993994 |
| Map | rs10993994 |
| PheGenI | rs10993994 |
| Biobank | rs10993994 |
| 1000 genomes | rs10993994 |
| hgdp | rs10993994 |
| ensembl | rs10993994 |
| geneview | rs10993994 |
| scholar | rs10993994 |
| rs10993994 | |
| pharmgkb | rs10993994 |
| gwascentral | rs10993994 |
| openSNP | rs10993994 |
| 23andMe | rs10993994 |
| SNPshot | rs10993994 |
| SNPdbe | rs10993994 |
| MSV3d | rs10993994 |
| GWAS Ctlg | rs10993994 |
| GMAF | 0.4734 |
| Max Magnitude | 2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19153072
] rs10993994 linked to prostate cancer
cancer-genetics these snps influence genetic risk for prostate cancer
- the haplotype rs6983267 rs1016343 rs4242384
- rs7501939
- rs1859962
- rs2660753
- rs9364554
- rs6465657
- rs10993994
- rs7931342
- rs2735839
- rs5945619
| GWAS | |
|---|---|
| SNP | rs10993994 |
| PubMedID | [PMID 18264096] |
| Condition | Prostate cancer (aggressive) |
| Gene | MSMB |
| Risk Allele | T |
| pValue | 7.00E-013 |
| OR | 1.16 |
| 95% CI | 1.04-1.29 |
[PMID 19336566] Replication of the 10q11 and Xp11 Prostate Cancer Risk Variants: Results from a Utah Pedigree-Based Study.
[PMID 19366831] Analysis of Recently Identified Prostate Cancer Susceptibility Loci in a Population-based Study: Associations with Family History and Clinical Features
[PMID 19383797] Fine mapping and functional analysis of a common variant in MSMB on chromosome 10q11.2 associated with prostate cancer susceptibility
| GWAS snp | |
|---|---|
| PMID | [PMID 18264097] |
| Trait | Prostate cancer |
| Title | Multiple newly identified loci associated with prostate cancer susceptibility |
| Risk Allele | T |
| P-val | 8.9999999999999996E-29 |
| Odds Ratio | 1.25 [1.17-1.34] |
[PMID 19644707] Comprehensive resequence analysis of a 97 kb region of chromosome 10q11.2 containing the MSMB gene associated with prostate cancer
[PMID 19900942] Prognostic significance of prostate cancer susceptibility variants on prostate-specific antigen recurrence after radical prostatectomy
[PMID 20333697] A functional polymorphism in MSMB gene promoter is associated with prostate cancer risk and serum MSMB expression
[PMID 20680031] Effect of androgen deprivation therapy on the expression of prostate cancer biomarkers MSMB and MSMB-binding protein CRISP3
[PMID 20696662] Polymorphisms at the Microseminoprotein-{beta} Locus Associated with Physiologic Variation in {beta}-Microseminoprotein and Prostate-Specific Antigen Levels
[PMID 20717903] Evidence for an association between prostate cancer and chromosome 8q24 and 10q11 genetic variants in African American men: The flint men's health study
[PMID 20736317] A common prostate cancer risk variant 5' of MSMB (microseminoprotein-beta) is a strong predictor of circulating MSP (microseminoprotein) in multiple populations
| GWAS snp | |
|---|---|
| PMID | [PMID 20676098] |
| Trait | |
| Title | Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population |
| Risk Allele | |
| P-val | 3E-8 |
| Odds Ratio | None None |
[PMID 20967219] The rs10993994 Risk Allele for Prostate Cancer Results in Clinically Relevant Changes in Microseminoprotein-Beta Expression in Tissue and Urine
[PMID 21085629] Analysis of the 10q11 Cancer Risk Locus Implicates MSMB and NCOA4 in Human Prostate Tumorigenesis
| GWAS snp | |
|---|---|
| PMID | [PMID 21160077]
|
| Trait | |
| Title | Genetic Correction of PSA Values Using Sequence Variants Associated with PSA Levels |
| Risk Allele | T |
| P-val | 7E-13 |
| Odds Ratio | 9.2000 [NR] % increase |
| GWAS snp | |
|---|---|
| PMID | [PMID 21743057]
|
| Trait | |
| Title | Genome-wide association study identifies new prostate cancer susceptibility loci. |
| Risk Allele | T |
| P-val | 0.000005 |
| Odds Ratio | 1.1800 [1.10-1.27] |
[PMID 22459122] Interactions Between Genome-wide Significant Genetic Variants and Circulating Concentrations of Insulin-like Growth Factor 1, Sex Hormones, and Binding Proteins in Relation to Prostate Cancer Risk in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium
[PMID 22144497] Assessing the clinical role of genetic markers of early-onset prostate cancer among high-risk men enrolled in prostate cancer early detection
[PMID 22733159] Analysis of prostate cancer association with four single-nucleotide polymorphisms from genome-wide studies and serum phyto-estrogen concentrations
[PMID 18708398] Multiple novel prostate cancer predisposition loci confirmed by an international study: the PRACTICAL Consortium.
[PMID 18794092] Association of prostate cancer risk variants with clinicopathologic characteristics of the disease.
[PMID 18974127] Association study of prostate cancer susceptibility variants with risks of invasive ovarian, breast, and colorectal cancer.
[PMID 19104501] Prostate cancer genomics: towards a new understanding.
[PMID 19318432] Generalizability of associations from prostate cancer genome-wide association studies in multiple populations.
[PMID 19434657] Individual and cumulative effect of prostate cancer risk-associated variants on clinicopathologic variables in 5,895 prostate cancer patients.
[PMID 19549807] Prostate cancer risk associated loci in African Americans.
[PMID 19639606] Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases.
[PMID 19997100] Mutation analysis of the MSMB gene in familial prostate cancer.
[PMID 20039378] Estimation of genotype relative risks from pedigree data by retrospective likelihoods.
[PMID 20569440] Alterations in LMTK2, MSMB and HNF1B gene expression are associated with the development of prostate cancer.
[PMID 20690139] Meta-analysis of genome-wide and replication association studies on prostate cancer.
[PMID 20826827] Context-dependent effects of genome-wide association study genotypes and macroenvironment on time to biochemical (prostate specific antigen) failure after prostatectomy.
[PMID 21071540] Validation of genome-wide prostate cancer associations in men of African descent.
[PMID 21343373] Prostate cancer predisposition loci and risk of metastatic disease and prostate cancer recurrence.
[PMID 21390317] Characterizing associations and SNP-environment interactions for GWAS-identified prostate cancer risk markers--results from BPC3.
[PMID 21538423] Early onset prostate cancer has a significant genetic component.
[PMID 22677538] The prostate cancer risk locus at 10q11 is associated with DNA repair capacity
[PMID 23213189] Levels of Beta-Microseminoprotein in Blood and Risk of Prostate Cancer in Multiple Populations
[PMID 23405784] [Susceptibility to prostate cancer in Han Chinese: single nucleotide polymorphism analysis of 1 667 cases]
| GWAS snp | |
|---|---|
| PMID | [PMID 23269536] |
| Trait | Prostate-specific antigen levels |
| Title | Genome-wide association study identified novel genetic variant on SLC45A3 gene associated with serum levels prostate-specific antigen (PSA) in a Chinese population. |
| Risk Allele | T |
| P-val | 5E-17 |
| Odds Ratio | .12 [NR] % higher levels |
[PMID 23937305] Validation of association of genetic variants at 10q with prostate-specific antigen (PSA) levels in men at high risk for prostate cancer
| GWAS snp | |
|---|---|
| PMID | [PMID 23555189]
|
| Trait | PCA3 expression level |
| Title | Genome-wide association study identifies genetic determinants of urine PCA3 levels in men. |
| Risk Allele | T |
| P-val | 1E-9 |
| Odds Ratio | 1.25 [1.18-1.32] unit increase |
[PMID 24411283] Prostate Cancer (PCa) Risk Variants and Risk of Fatal PCa in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium
[PMID 24464504] MSMB variation and prostate cancer risk: Clues towards a possible fungal etiology
[PMID 22887727] Investigation of the relationship between prostate cancer and MSMB and NCOA4 genetic variants and protein expression.
[PMID 23246478] Personalized prostate specific antigen testing using genetic variants may reduce unnecessary prostate biopsies.
[PMID 23608167] Association of prostate cancer susceptibility variant (MSMB) rs10993994 with risk of spermatogenic failure.
[PMID 24987558] Promoter Polymorphism (rs12770170, -184C/T) of Microseminoprotein, Beta as a Risk Factor for Benign Prostatic Hyperplasia in Korean Population
| GWAS snp | |
|---|---|
| PMID | [PMID 24753544]
|
| Trait | Prostate cancer |
| Title | Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies. |
| Risk Allele | T |
| P-val | 3E-26 |
| Odds Ratio | .40 [0.33-0.47] unit increase |
| GWAS snp | |
|---|---|
| PMID | [PMID 24740154]
|
| Trait | Prostate cancer (early onset) |
| Title | Genome-wide association scan for variants associated with early-onset prostate cancer. |
| Risk Allele | T |
| P-val | 2E-7 |
| Odds Ratio | 1.32 [1.21-1.43] |
| ClinVar | |
|---|---|
| Risk | Rs10993994(C;C) |
| Alt | Rs10993994(C;C) |
| Reference | Rs10993994(T;T) |
| Significance | Other |
| Disease | Prostate cancer |
| Variation | info |
| Gene | TIMM23B MSMB |
| CLNDBN | Prostate cancer, hereditary, 13 |
| Reversed | 0 |
| HGVS | NC_000010.10:g.51549496T\x3d |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000015312.26, |
[PMID 26240778] The rs10993994 in the proximal MSMB promoter region is a functional polymorphism in Asian Indian subjects
[PMID 32065238] Prostate cancer risk SNP rs10993994 is a trans-eQTL for SNHG11 mediated through MSMB.
[PMID 33122083] Validation of prostate cancer risk variants rs10993994 and rs7098889 by CRISPR/Cas9 mediated genome editing.
