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rs2107732

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common on affy axiom data
Make rs2107732(A;A)
Make rs2107732(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position45038379
GeneCCM2
is asnp
is mentioned by
dbSNPrs2107732
ebirs2107732
HLIrs2107732
Exacrs2107732
Varsomers2107732
Maprs2107732
PheGenIrs2107732
hapmaprs2107732
1000 genomesrs2107732
hgdprs2107732
ensemblrs2107732
gopubmedrs2107732
geneviewrs2107732
scholarrs2107732
googlers2107732
pharmgkbrs2107732
gwascentralrs2107732
openSNPrs2107732
23andMers2107732
23andMe allrs2107732
SNP Nexus

SNPshotrs2107732
SNPdbers2107732
MSV3drs2107732
GWAS Ctlgrs2107732
GMAF0.04683
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene CCM2
allele A
frequency 0.083
sift TOLERATED
HuRef 1103652561181
Disease Association Defects in CCM2 are the cause of cerebral cavernous malformations 2 (CCM2) (MIM:603284). Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. CCMs have an incidence of 0.1%-0.5% in the general population and usually present clinically during the 3rd to 5th decade of life. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. Familial forms of CCMs are inherited in an autosomal dominant fashion.



GET Evidence
CCM2-V53I
aa_change Val53Ile
aa_change_short V53I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0671128
summary