rs797044623

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(GC;GC)	0	common in clinvar
(GC;TT)	6.7	Cerebral Cavernous Malformation mutation

Make rs797044623(TT;TT)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

45000368

Gene	CCM2, LOC102723334

is a	snp
is	mentioned by
dbSNP	rs797044623
dbSNP (classic)	rs797044623
ClinGen	rs797044623
ebi	rs797044623
HLI	rs797044623
Exac	rs797044623
Gnomad	rs797044623
Varsome	rs797044623
LitVar	rs797044623
Map	rs797044623
PheGenI	rs797044623
Biobank	rs797044623
1000 genomes	rs797044623
hgdp	rs797044623
ensembl	rs797044623
geneview	rs797044623
scholar	rs797044623
google	rs797044623
pharmgkb	rs797044623
gwascentral	rs797044623
openSNP	rs797044623
23andMe	rs797044623
SNPshot	rs797044623
SNPdbe	rs797044623
MSV3d	rs797044623
GWAS Ctlg	rs797044623

Max Magnitude

6.7

aka c.30+5_30+6delGCinsTT

ClinVar
Risk	rs797044623(TT;TT)
Alt	rs797044623(TT;TT)
Reference	Rs797044623(GC;GC)
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.45039967_45039968delGCinsTT
CLNSRC
CLNACC	RCV000173535.1, RCV000339043.1,