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rs4792311

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2 Increased risk of prostate cancer
(A;G) 2 Increased risk of prostate cancer
(G;G) 1 Normal risk of prostate cancer
ReferenceGRCh38 38.1/141
Chromosome17
Position13011692
GeneELAC2
is asnp
is mentioned by
dbSNPrs4792311
ebirs4792311
HLIrs4792311
Exacrs4792311
Varsomers4792311
Maprs4792311
PheGenIrs4792311
hapmaprs4792311
1000 genomesrs4792311
hgdprs4792311
ensemblrs4792311
gopubmedrs4792311
geneviewrs4792311
scholarrs4792311
googlers4792311
pharmgkbrs4792311
gwascentralrs4792311
openSNPrs4792311
23andMers4792311
23andMe allrs4792311
SNP Nexus

SNPshotrs4792311
SNPdbers4792311
MSV3drs4792311
GWAS Ctlgrs4792311
GMAF0.2066
Max Magnitude2
? (A;A) (A;G) (G;G) 28
OMIM605367
DescPROSTATE CANCER, SUSCEPTIBILITY TO
Variant0001
Relatedalso


ClinVar
Risk rs4792311(A;A)
Alt rs4792311(A;A)
Reference rs4792311(G;G)
Significance Pathogenic
Disease Prostate cancer
Variation info
Gene ELAC2
CLNDBN Prostate cancer, hereditary, 2
Reversed 0
HGVS NC_000017.10:g.12915009G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005358.3,



[PMID 18375959OA-icon.png] Sequence variants of elaC homolog 2 (Escherichia coli) (ELAC2) gene and susceptibility to prostate cancer in the Health Professionals Follow-Up Study.

[PMID 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.

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

[PMID 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.


GET Evidence
ELAC2-S217L
aa_change Ser217Leu
aa_change_short S217L
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.273471
summary Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).



[PMID 27318894] Association between RNASEL, MSR1, and ELAC2 single nucleotide polymorphisms and gene expression in prostate cancer risk.