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rs5030739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 1.3 Slight increase (1.3x) in risk for prostate cancer
(G;G) 0 common on affy axiom data


Make rs5030739(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position12996585
GeneELAC2
is asnp
is mentioned by
dbSNPrs5030739
dbSNP (old)rs5030739
ClinGenrs5030739
ebirs5030739
HLIrs5030739
Exacrs5030739
Gnomadrs5030739
Varsomers5030739
Maprs5030739
PheGenIrs5030739
Biobankrs5030739
1000 genomesrs5030739
hgdprs5030739
ensemblrs5030739
gopubmedrs5030739
geneviewrs5030739
scholarrs5030739
googlers5030739
pharmgkbrs5030739
gwascentralrs5030739
openSNPrs5030739
23andMers5030739
23andMe allrs5030739
SNP Nexus

SNPshotrs5030739
SNPdbers5030739
MSV3drs5030739
GWAS Ctlgrs5030739
GMAF0.02433
Max Magnitude1.3
OMIM605367
Desc
Variant0002
Relatedalso


ClinVar
Risk rs5030739(A;A)
Alt rs5030739(A;A)
Reference Rs5030739(G;G)
Significance Pathogenic
Disease Prostate cancer not specified Combined oxidative phosphorylation deficiency 17
Variation info
Gene ELAC2
CLNDBN Prostate cancer, hereditary, 2 not specified Combined oxidative phosphorylation deficiency 17
Reversed 1
HGVS NC_000017.10:g.12899902C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005359.3, RCV000429965.1, RCV000477360.1,



[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.