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rs4712653

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) normal
(C;T) possible increased risk for neuroblastoma
(T;T) 0 2x increased risk for neuroblastoma
ReferenceGRCh38 38.1/141
Chromosome6
Position22125735
GeneCASC15
is asnp
is mentioned by
dbSNPrs4712653
ebirs4712653
HLIrs4712653
Exacrs4712653
Varsomers4712653
Maprs4712653
PheGenIrs4712653
hapmaprs4712653
1000 genomesrs4712653
hgdprs4712653
ensemblrs4712653
gopubmedrs4712653
geneviewrs4712653
scholarrs4712653
googlers4712653
pharmgkbrs4712653
gwascentralrs4712653
openSNPrs4712653
23andMers4712653
23andMe allrs4712653
SNP Nexus

SNPshotrs4712653
SNPdbers4712653
MSV3drs4712653
GWAS Ctlgrs4712653
GMAF0.348
Max Magnitude0
? (C;C) (C;T) (T;T) 28
SNPs clustered in one region of chromosome 6p22 have been linked to increased risk for the exceedingly rare childhood cancer known as neuroblastoma. A study involving 720 patients determined that rs4712653(C;C) genotypes had increased likelihood of neuroblastoma development (odds ratio 1.96, CI: 1.57 to 2.43, p=7 x 10-8). At-risk homozygotes diagnosed with neuroblastoma had, on average, more malignant clinical presentation, more aggressive disease, and poorer long-term survival.[PMID 18463370OA-icon.png]

For more information on this cluster of SNPs, see rs6939340.

OMIM256700
DescNEUROBLASTOMA
Variant
Relatedalso
GWAS snp
PMID [PMID 21124317OA-icon.png]
Trait
Title Integrative genomics identifies LMO1 as a neuroblastoma oncogene
Risk Allele C
P-val 8E-17
Odds Ratio 1.4000 [NR]
OMIM613015
Desc
Variant
Relatedalso
[PMID 19412175OA-icon.png] Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.