rs4792311
From SNPedia
Orientation | plus |
Stabilized | plus |
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 |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 13011692 |
Gene | ELAC2 |
is a | snp |
is | mentioned by |
dbSNP | rs4792311 |
dbSNP (classic) | rs4792311 |
ClinGen | rs4792311 |
ebi | rs4792311 |
HLI | rs4792311 |
Exac | rs4792311 |
Gnomad | rs4792311 |
Varsome | rs4792311 |
LitVar | rs4792311 |
Map | rs4792311 |
PheGenI | rs4792311 |
Biobank | rs4792311 |
1000 genomes | rs4792311 |
hgdp | rs4792311 |
ensembl | rs4792311 |
geneview | rs4792311 |
scholar | rs4792311 |
rs4792311 | |
pharmgkb | rs4792311 |
gwascentral | rs4792311 |
openSNP | rs4792311 |
23andMe | rs4792311 |
SNPshot | rs4792311 |
SNPdbe | rs4792311 |
MSV3d | rs4792311 |
GWAS Ctlg | rs4792311 |
GMAF | 0.2066 |
Max Magnitude | 2 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | Rs4792311(A;A) |
Alt | Rs4792311(A;A) |
Reference | Rs4792311(G;G) |
Significance | Pathogenic |
Disease | Prostate cancer not specified |
Variation | info |
Gene | ELAC2 |
CLNDBN | Prostate cancer, hereditary, 2 not specified |
Reversed | 0 |
HGVS | NC_000017.10:g.12915009G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005358.3, RCV000419055.1, |
[PMID 18375959] Sequence variants of elaC homolog 2 (Escherichia coli) (ELAC2) gene and susceptibility to prostate cancer in the Health Professionals Follow-Up Study.
[PMID 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.
[PMID 19567509] Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 27318894] Association between RNASEL, MSR1, and ELAC2 single nucleotide polymorphisms and gene expression in prostate cancer risk.
Categories:
- Is a snp
- In dbSNP
- SNPs on chromosome 17
- Has genotype
- Has population
- Uses omim
- On chip 23andMe v1
- On chip 23andMe v2
- On chip 23andMe v3
- On chip 23andMe v4
- On chip Affy GenomeWide 6
- On chip Ancestry v2
- On chip FTDNA2
- On chip FTDNA
- On chip HumanOmni1Quad
- On chip Illumina Human 1M
- On chip Ancestry v2c
- On chip Ancestry v2d