rs137852843

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;T)	6.7	Cerebral Cavernous Malformation mutation
(T;T)	0	common in clinvar

Make rs137852843(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

45068563

Gene

CCM2

is a	snp
is	mentioned by
dbSNP	rs137852843
dbSNP (classic)	rs137852843
ClinGen	rs137852843
ebi	rs137852843
HLI	rs137852843
Exac	rs137852843
Gnomad	rs137852843
Varsome	rs137852843
LitVar	rs137852843
Map	rs137852843
PheGenI	rs137852843
Biobank	rs137852843
1000 genomes	rs137852843
hgdp	rs137852843
ensembl	rs137852843
geneview	rs137852843
scholar	rs137852843
google	rs137852843
pharmgkb	rs137852843
gwascentral	rs137852843
openSNP	rs137852843
23andMe	rs137852843
SNPshot	rs137852843
SNPdbe	rs137852843
MSV3d	rs137852843
GWAS Ctlg	rs137852843

Max Magnitude

6.7

aka c.656T>G (p.Leu219Arg)

OMIM	607929
Desc
Variant	0007
Related	also

ClinVar
Risk	rs137852843(G;G)
Alt	rs137852843(G;G)
Reference	Rs137852843(T;T)
Significance	Pathogenic
Disease	Cerebral cavernous malformations 2
Variation	info
Gene	CCM2
CLNDBN	Cerebral cavernous malformations 2
Reversed	0
HGVS	NC_000007.13:g.45108162T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002805.3,