Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039402
rs886039402
KRIT1
A 0.700 CausalMutation CLINVAR High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors. 24689081

2014
dbSNP: rs886039402
rs886039402
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: rs886039402
rs886039402
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