Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs144848
rs144848
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.010 GeneticVariation BEFREE An Asn372His homozygous variation was noted in the BRCA2 gene in the patient with medulloblastoma whereas the variation was heterozygous in the healthy father. 22044372

2011