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rs721048

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.9 slightly increased prostate cancer risk
(A;G) None
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome2
Position62904596
GeneEHBP1
is asnp
is mentioned by
dbSNPrs721048
ebirs721048
HLIrs721048
Exacrs721048
Varsomers721048
Maprs721048
PheGenIrs721048
hapmaprs721048
1000 genomesrs721048
hgdprs721048
ensemblrs721048
gopubmedrs721048
geneviewrs721048
scholarrs721048
googlers721048
pharmgkbrs721048
gwascentralrs721048
openSNPrs721048
23andMers721048
23andMe allrs721048
SNP Nexus

SNPshotrs721048
SNPdbers721048
MSV3drs721048
GWAS Ctlgrs721048
GMAF0.1088
Max Magnitude1.9
? (A;A) (A;G) (G;G) 28
[PMID 18264098OA-icon.png] shows a significantly stronger association with more aggressive forms of prostate cancer (odds ratios (OR) = 1.15; P = 7.7 x 10(-9)).
GWAS
SNP rs721048
PubMedID [PMID 18264098OA-icon.png]
Condition Prostate cancer
Gene EHBP1
Risk Allele A
pValue 8.00E-009
OR 1.15
95% CI 1.10-1.21


OMIM176807
DescPROSTATE CANCER
Variant
Relatedalso
OMIM300704
DescPROSTATE CANCER, HEREDITARY, X-LINKED 2; HPCX2
Variant
Relatedalso
OMIM611868
DescPROSTATE CANCER, HEREDITARY, 12; HPC12
Variant
Relatedalso
OMIM609922
DescEH DOMAIN-BINDING PROTEIN 1; EHBP1
Variant
Relatedalso



OMIM609922
Desc
Variant0001
Relatedalso
[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 19567509OA-icon.png] Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.


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


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


GET Evidence
rs721048
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.15625
summary



[PMID 23405784] [Susceptibility to prostate cancer in Han Chinese: single nucleotide polymorphism analysis of 1 667 cases]


ClinVar
Risk rs721048(A;A)
Alt rs721048(A;A)
Reference rs721048(G;G)
Significance Pathogenic
Disease Prostate cancer
Variation info
Gene EHBP1
CLNDBN Prostate cancer, hereditary, 12
Reversed 0
HGVS NC_000002.11:g.63131731G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001429.2,



[PMID 26185455OA-icon.png] Association between EHBP1 rs721048(A>G) polymorphism and prostate cancer susceptibility: a meta-analysis of 17 studies involving 150,678 subjects