rs765548101

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	5.2	Cerebral cavernous angioma associated mutation; variable penetrance

Make rs765548101(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

45064528

Gene

CCM2

is a	snp
is	mentioned by
dbSNP	rs765548101
dbSNP (classic)	rs765548101
ClinGen	rs765548101
ebi	rs765548101
HLI	rs765548101
Exac	rs765548101
Gnomad	rs765548101
Varsome	rs765548101
LitVar	rs765548101
Map	rs765548101
PheGenI	rs765548101
Biobank	rs765548101
1000 genomes	rs765548101
hgdp	rs765548101
ensembl	rs765548101
geneview	rs765548101
scholar	rs765548101
google	rs765548101
pharmgkb	rs765548101
gwascentral	rs765548101
openSNP	rs765548101
23andMe	rs765548101
SNPshot	rs765548101
SNPdbe	rs765548101
MSV3d	rs765548101
GWAS Ctlg	rs765548101

Max Magnitude

5.2

aka c.354C>G (p.Tyr118Ter)

ClinVar
Risk	rs765548101(G;G) rs765548101(T;T)
Alt	rs765548101(G;G) rs765548101(T;T)
Reference	Rs765548101(C;C)
Significance	Pathogenic
Disease	Cavernous hemangioma
Variation	info
Gene	CCM2
CLNDBN	Cavernous hemangioma
Reversed	0
HGVS	NC_000007.13:g.45104127C>G
CLNSRC
CLNACC	RCV000414908.1,