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rs9295536

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2x increased risk for neuroblastoma
(A;C) possible increased risk for neuroblastoma
(C;C) 0 normal
ReferenceGRCh38 38.1/141
Chromosome6
Position22131700
GeneCASC15
is asnp
is mentioned by
dbSNPrs9295536
dbSNP (classic)rs9295536
ClinGenrs9295536
ebirs9295536
HLIrs9295536
Exacrs9295536
Gnomadrs9295536
Varsomers9295536
LitVarrs9295536
Maprs9295536
PheGenIrs9295536
Biobankrs9295536
1000 genomesrs9295536
hgdprs9295536
ensemblrs9295536
geneviewrs9295536
scholarrs9295536
googlers9295536
pharmgkbrs9295536
gwascentralrs9295536
openSNPrs9295536
23andMers9295536
SNPshotrs9295536
SNPdbers9295536
MSV3drs9295536
GWAS Ctlgrs9295536
GMAF0.3627
Max Magnitude0
? (A;A) (A;C) (C;C) 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 rs9295536(A;A) genotypes had increased likelihood of neuroblastoma development (odds ratio 1.93, CI: 1.55 to 2.40, p=8 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
OMIM613015
Desc
Variant
Relatedalso


[PMID 19412175OA-icon.png] Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.

GWAS snp
PMID [PMID 22941191OA-icon.png]
Trait Neuroblastoma
Title Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.
Risk Allele A
P-val 8E-16
Odds Ratio 1.36 [NR]