Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607203
rs267607203
KRIT1
A 0.740 CausalMutation CLINVAR All subjects were carriers of the founder Q455X 'Common Hispanic Mutation' (CHM) in the KRIT1 gene, and had a clinical diagnosis of CCM or had an affected first- or second-degree relative with CCM. 24401931

2014
dbSNP: rs267607203
rs267607203
KRIT1
0.740 GeneticVariation BEFREE All subjects were carriers of the founder Q455X 'Common Hispanic Mutation' (CHM) in the KRIT1 gene, and had a clinical diagnosis of CCM or had an affected first- or second-degree relative with CCM. 24401931

2014
dbSNP: rs267607203
rs267607203
KRIT1
0.740 GeneticVariation BEFREE We posited that there might be a relationship between dural ALMs and CCMs and undertook polymerase chain reaction-based mutational analysis for the single common mutation seen in Hispanics with familial cavernous cerebral hemangiomas, that is, c.1363C>T KRIT1. 22261708

2012
dbSNP: rs267607203
rs267607203
KRIT1
0.740 GeneticVariation BEFREE A somatic 34-nucleotide deletion in CCM1 is identified in a CCM lesion along with a germ line CCM1 mutation (Q455X). 15718512

2005
dbSNP: rs267607203
rs267607203
KRIT1
0.740 GeneticVariation BEFREE This Q455X mutation is found in 18 (86%) of 21 persons with a positive family history and in 13 (59%) of 22 persons with apparently sporadic CCM. 12854741

2003
dbSNP: rs267607203
rs267607203
KRIT1
A 0.740 CausalMutation CLINVAR Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations. 12404106

2002
dbSNP: rs267607203
rs267607203
KRIT1
A 0.740 CausalMutation CLINVAR Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1). 10545614

1999
dbSNP: rs267607204
rs267607204
KRIT1
0.710 GeneticVariation BEFREE C329X in KRIT1 is a founder mutation among CCM patients in Sardinia. 19454328

2009
dbSNP: rs267607204
rs267607204
KRIT1
T 0.710 CausalMutation CLINVAR C329X in KRIT1 is a founder mutation among CCM patients in Sardinia. 19454328

2009
dbSNP: rs1057517753
rs1057517753
KRIT1
T 0.700 CausalMutation CLINVAR Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population. 27649701

2017
dbSNP: rs1554518386
rs1554518386
KRIT1
CT 0.700 CausalMutation CLINVAR High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations. 28645800

2017
dbSNP: rs1554528541
rs1554528541
KRIT1
G 0.700 CausalMutation CLINVAR High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations. 28645800

2017
dbSNP: rs1180476377
rs1180476377
KRIT1
T 0.700 CausalMutation CLINVAR KRIT1 mutations in three Japanese pedigrees with hereditary cavernous malformation. 27766163

2016
dbSNP: rs1180476377
rs1180476377
KRIT1
T 0.700 CausalMutation CLINVAR Mutation prevalence of cerebral cavernous malformation genes in Spanish patients. 24466005

2014
dbSNP: rs1554504519
rs1554504519
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: rs1554514380
rs1554514380
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: rs1554527922
rs1554527922
KRIT1
G 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 High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors. 24689081

2014
dbSNP: rs1180476377
rs1180476377
KRIT1
T 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: rs1554514380
rs1554514380
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: rs1554527922
rs1554527922
KRIT1
G 0.700 CausalMutation CLINVAR Two-hit mechanism in cerebral cavernous malformation? A case of monozygotic twins with a CCM1/KRIT1 germline mutation. 23584803

2013
dbSNP: rs1554527925
rs1554527925
KRIT1
C 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: rs1563266658
rs1563266658
KRIT1
C 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 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 CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions. 23595507

2013