rs137852842

Orientation

plus

Stabilized

plus

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

Make rs137852842(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

45000334

Gene	CCM2, LOC102723334

is a	snp
is	mentioned by
dbSNP	rs137852842
dbSNP (classic)	rs137852842
ClinGen	rs137852842
ebi	rs137852842
HLI	rs137852842
Exac	rs137852842
Gnomad	rs137852842
Varsome	rs137852842
LitVar	rs137852842
Map	rs137852842
PheGenI	rs137852842
Biobank	rs137852842
1000 genomes	rs137852842
hgdp	rs137852842
ensembl	rs137852842
geneview	rs137852842
scholar	rs137852842
google	rs137852842
pharmgkb	rs137852842
gwascentral	rs137852842
openSNP	rs137852842
23andMe	rs137852842
SNPshot	rs137852842
SNPdbe	rs137852842
MSV3d	rs137852842
GWAS Ctlg	rs137852842

Max Magnitude

5.2

aka c.1A>G (p.Met1Val)

23andMe name: i5005678

OMIM	607929
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137852842(G;G)
Alt	rs137852842(G;G)
Reference	Rs137852842(A;A)
Significance	Pathogenic
Disease	Cerebral cavernous malformations 2
Variation	info
Gene	CCM2
CLNDBN	Cerebral cavernous malformations 2
Reversed	0
HGVS	NC_000007.13:g.45039933A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002803.3,