DisGeNET - a database of gene-disease associations

Neuroblastoma, C0027819

Variant: rs1048108 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1048108

BARD1 ; SNHG31

0.010

GeneticVariation

BEFREE

Functional single-nucleotide polymorphism (SNP) prioritization identified two causative variants that independently contributed to neuroblastoma risk, and each replicated robustly in multiple independent cohorts comprising 445 high-risk cases and 3,170 controls (rs17489363: combined p = 1.07 × 10<sup>-31</sup> , OR:1.79, 95% CI:1.62-1.98 and rs1048108: combined p = 7.27 × 10<sup>-14</sup> , OR:0.65, 95% CI:0.58-0.73).

30132831

2018