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rs1057520070

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;C) 5.2 Cerebral cavernous angioma associated mutation; variable penetrance
(C;C) 0 common in clinvar


Make rs1057520070(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position45038342
GeneCCM2
is asnp
is mentioned by
dbSNPrs1057520070
dbSNP (old)rs1057520070
ClinGenrs1057520070
ebirs1057520070
HLIrs1057520070
Exacrs1057520070
Gnomadrs1057520070
Varsomers1057520070
Maprs1057520070
PheGenIrs1057520070
Biobankrs1057520070
1000 genomesrs1057520070
hgdprs1057520070
ensemblrs1057520070
gopubmedrs1057520070
geneviewrs1057520070
scholarrs1057520070
googlers1057520070
pharmgkbrs1057520070
gwascentralrs1057520070
openSNPrs1057520070
23andMers1057520070
23andMe allrs1057520070
SNPshotrs1057520070
SNPdbers1057520070
MSV3drs1057520070
GWAS Ctlgrs1057520070
Max Magnitude5.2

aka c.183delC (p.Pro62Leufs)

ClinVar
Risk rs1057520070(-;-)
Alt rs1057520070(-;-)
Reference Rs1057520070(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene CCM2
CLNDBN not provided
Reversed 0
HGVS NC_000007.13:g.45077941delC
CLNSRC
CLNACC RCV000442431.1,