Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747489687
rs747489687
MCPH1
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 GeneticVariation BEFREE The MCPH1 p.Arg304ValfsTer3 carrier breast tumors showed recurrent tumor suppressor gene TP53 mutations, which were also significantly over-represented in breast tumors with somatically inactivated MCPH1. 30809794

2019