rs1563266658, KRIT1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cavernous Hemangioma of Brain
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
0.700 CausalMutation CLINVAR CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions. 23595507 2013
Cavernous Hemangioma of Brain
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
0.700 CausalMutation CLINVAR Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation. 17562932 2007