Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1563313372
rs1563313372
KRIT1
A 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
dbSNP: rs1563313372
rs1563313372
KRIT1
A 0.700 CausalMutation CLINVAR Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation. 21029238

2011
dbSNP: rs1563313372
rs1563313372
KRIT1
A 0.700 CausalMutation CLINVAR Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations. 12404106

2002