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rs10993994

From SNPedia

Orientationminus
Stabilizedplus
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)
ReferenceGRCh38 38.1/141
Chromosome10
Position46046326
GeneMSMB, TIMM23B
is asnp
is mentioned by
dbSNPrs10993994
ebirs10993994
HLIrs10993994
Exacrs10993994
Varsomers10993994
Maprs10993994
PheGenIrs10993994
hapmaprs10993994
1000 genomesrs10993994
hgdprs10993994
ensemblrs10993994
gopubmedrs10993994
geneviewrs10993994
scholarrs10993994
googlers10993994
pharmgkbrs10993994
gwascentralrs10993994
openSNPrs10993994
23andMers10993994
23andMe allrs10993994
SNP Nexus

SNPshotrs10993994
SNPdbers10993994
MSV3drs10993994
GWAS Ctlgrs10993994
GMAF0.4734
Max Magnitude2
? (C;C) (C;T) (T;T) 28
[PMID 19153072OA-icon.png] rs10993994 linked to prostate cancer

cancer-genetics these snps influence genetic risk for prostate cancer

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 19336566OA-icon.png] Replication of the 10q11 and Xp11 Prostate Cancer Risk Variants: Results from a Utah Pedigree-Based Study.

[PMID 19366831OA-icon.png] Analysis of Recently Identified Prostate Cancer Susceptibility Loci in a Population-based Study: Associations with Family History and Clinical Features

[PMID 19383797OA-icon.png] 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]
OMIM611928
DescPROSTATE CANCER, HEREDITARY, 13; HPC13
Variant
Relatedalso
OMIM157145
DescMICROSEMINOPROTEIN, BETA; MSMB
Variant
Relatedalso
[PMID 19644707OA-icon.png] 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 20696662OA-icon.png] 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 20736317OA-icon.png] 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 20967219OA-icon.png] The rs10993994 Risk Allele for Prostate Cancer Results in Clinically Relevant Changes in Microseminoprotein-Beta Expression in Tissue and Urine


[PMID 21085629OA-icon.png] Analysis of the 10q11 Cancer Risk Locus Implicates MSMB and NCOA4 in Human Prostate Tumorigenesis

GWAS snp
PMID [PMID 21160077OA-icon.png]
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
OMIM157145
Desc
Variant0001
Relatedalso
GWAS snp
PMID [PMID 21743057OA-icon.png]
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 22459122OA-icon.png] 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 22144497OA-icon.png] 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 18708398OA-icon.png] Multiple novel prostate cancer predisposition loci confirmed by an international study: the PRACTICAL Consortium.


[PMID 18794092OA-icon.png] Association of prostate cancer risk variants with clinicopathologic characteristics of the disease.


[PMID 18974127OA-icon.png] Association study of prostate cancer susceptibility variants with risks of invasive ovarian, breast, and colorectal cancer.


[PMID 19104501OA-icon.png] Prostate cancer genomics: towards a new understanding.


[PMID 19318432OA-icon.png] Generalizability of associations from prostate cancer genome-wide association studies in multiple populations.


[PMID 19434657OA-icon.png] Individual and cumulative effect of prostate cancer risk-associated variants on clinicopathologic variables in 5,895 prostate cancer patients.


[PMID 19549807OA-icon.png] Prostate cancer risk associated loci in African Americans.


[PMID 19639606OA-icon.png] Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases.


[PMID 19997100OA-icon.png] Mutation analysis of the MSMB gene in familial prostate cancer.


[PMID 20039378OA-icon.png] Estimation of genotype relative risks from pedigree data by retrospective likelihoods.


[PMID 20569440OA-icon.png] 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 20826827OA-icon.png] Context-dependent effects of genome-wide association study genotypes and macroenvironment on time to biochemical (prostate specific antigen) failure after prostatectomy.


[PMID 21071540OA-icon.png] Validation of genome-wide prostate cancer associations in men of African descent.


[PMID 21343373OA-icon.png] Prostate cancer predisposition loci and risk of metastatic disease and prostate cancer recurrence.


[PMID 21390317OA-icon.png] Characterizing associations and SNP-environment interactions for GWAS-identified prostate cancer risk markers--results from BPC3.


[PMID 21538423OA-icon.png] Early onset prostate cancer has a significant genetic component.


GET Evidence
rs10993994
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.542362
summary



[PMID 22677538] The prostate cancer risk locus at 10q11 is associated with DNA repair capacity


[PMID 23213189OA-icon.png] 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 23937305OA-icon.png] 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 23555189OA-icon.png]
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 24411283OA-icon.png] Prostate Cancer (PCa) Risk Variants and Risk of Fatal PCa in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium


[PMID 24464504OA-icon.png] MSMB variation and prostate cancer risk: Clues towards a possible fungal etiology


[PMID 22887727OA-icon.png] Investigation of the relationship between prostate cancer and MSMB and NCOA4 genetic variants and protein expression.


[PMID 23246478OA-icon.png] 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 24987558OA-icon.png] Promoter Polymorphism (rs12770170, -184C/T) of Microseminoprotein, Beta as a Risk Factor for Benign Prostatic Hyperplasia in Korean Population

GWAS snp
PMID [PMID 24753544OA-icon.png]
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 24740154OA-icon.png]
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 Pathogenic
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 RCV000015312.25,



[PMID 26240778OA-icon.png] The rs10993994 in the proximal MSMB promoter region is a functional polymorphism in Asian Indian subjects