rs137852841

Orientation

plus

Stabilized

plus

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

Make rs137852841(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

45064493

Gene

CCM2

is a	snp
is	mentioned by
dbSNP	rs137852841
dbSNP (classic)	rs137852841
ClinGen	rs137852841
ebi	rs137852841
HLI	rs137852841
Exac	rs137852841
Gnomad	rs137852841
Varsome	rs137852841
LitVar	rs137852841
Map	rs137852841
PheGenI	rs137852841
Biobank	rs137852841
1000 genomes	rs137852841
hgdp	rs137852841
ensembl	rs137852841
geneview	rs137852841
scholar	rs137852841
google	rs137852841
pharmgkb	rs137852841
gwascentral	rs137852841
openSNP	rs137852841
23andMe	rs137852841
SNPshot	rs137852841
SNPdbe	rs137852841
MSV3d	rs137852841
GWAS Ctlg	rs137852841

Max Magnitude

6.7

aka c.319C>T (p.Gln107Ter)

23andMe name: i5005677

OMIM	607929
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852841(T;T)
Alt	rs137852841(T;T)
Reference	Rs137852841(C;C)
Significance	Pathogenic
Disease	Cerebral cavernous malformations 2 not provided
Variation	info
Gene	CCM2
CLNDBN	Cerebral cavernous malformations 2 not provided
Reversed	0
HGVS	NC_000007.13:g.45104092C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002800.3, RCV000289897.2,