rs4712653

plus

Geno	Mag	Summary
(C;C)	1.6	Slightly (~1.6x) increased risk for neuroblastoma
(C;T)	1.3	very slightly (~1.3x) increased risk for neuroblastoma
(T;T)	0	common/normal

Reference

GRCh38 38.1/141

Chromosome

6

Position

22125735

Gene

CASC15

is a	snp
is	mentioned by
dbSNP	rs4712653
dbSNP (classic)	rs4712653
ClinGen	rs4712653
ebi	rs4712653
HLI	rs4712653
Exac	rs4712653
Gnomad	rs4712653
Varsome	rs4712653
LitVar	rs4712653
Map	rs4712653
PheGenI	rs4712653
Biobank	rs4712653
1000 genomes	rs4712653
hgdp	rs4712653
ensembl	rs4712653
geneview	rs4712653
scholar	rs4712653
google	rs4712653
pharmgkb	rs4712653
gwascentral	rs4712653
openSNP	rs4712653
23andMe	rs4712653
SNPshot	rs4712653
SNPdbe	rs4712653
MSV3d	rs4712653
GWAS Ctlg	rs4712653

GMAF

0.348

Max Magnitude

1.6

?

(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 1.35, CI: 1.24 to 1.46, p= 5.5 x 10e13). At-risk homozygotes diagnosed with neuroblastoma had, on average, more malignant clinical presentation, more aggressive disease, and poorer long-term survival.[PMID 18463370 ]

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

OMIM	256700
Desc	NEUROBLASTOMA
Variant
Related	also

GWAS snp
PMID	[PMID 21124317 ]
Trait
Title	Integrative genomics identifies LMO1 as a neuroblastoma oncogene
Risk Allele	C
P-val	8E-17
Odds Ratio	1.4000 [NR]

OMIM	613015
Desc
Variant
Related	also

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