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rs6435862

From SNPedia

increases the odds of aggressive neuroblastoma
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 2 2.8x higher risk of aggressive neuroblastoma
(G;T) 1.5 1.7x higher risk of aggressive neuroblastoma
(T;T) 0 Normal risk of aggressive neuroblastoma.
ReferenceGRCh38 38.1/141
Chromosome2
Position214807822
GeneBARD1
is asnp
is mentioned by
dbSNPrs6435862
ebirs6435862
HLIrs6435862
Exacrs6435862
Varsomers6435862
Maprs6435862
PheGenIrs6435862
hapmaprs6435862
1000 genomesrs6435862
hgdprs6435862
ensemblrs6435862
gopubmedrs6435862
geneviewrs6435862
scholarrs6435862
googlers6435862
pharmgkbrs6435862
gwascentralrs6435862
openSNPrs6435862
23andMers6435862
23andMe allrs6435862
SNP Nexus

SNPshotrs6435862
SNPdbers6435862
MSV3drs6435862
GWAS Ctlgrs6435862
GMAF0.2075
Max Magnitude2
? (G;G) (G;T) (T;T) 28
[PMID 19412175OA-icon.png] Common variations in BARD1 influence susceptibility to high-risk neuroblastoma

Each G allele has been associated with an allelic odds ratio of 1.68 (p = 8.65 x 10(-18)) for risk of aggressive neuroblastoma.

OMIM256700
DescNEUROBLASTOMA
Variant
Relatedalso
OMIM613016
Desc
Variant
Relatedalso


GET Evidence
rs6435862
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.808333
summary



[PMID 23222812OA-icon.png] Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility