rs267607204

Orientation

minus

Stabilized

minus

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

Make rs267607204(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

92234451

Gene

KRIT1

is a	snp
is	mentioned by
dbSNP	rs267607204
dbSNP (classic)	rs267607204
ClinGen	rs267607204
ebi	rs267607204
HLI	rs267607204
Exac	rs267607204
Gnomad	rs267607204
Varsome	rs267607204
LitVar	rs267607204
Map	rs267607204
PheGenI	rs267607204
Biobank	rs267607204
1000 genomes	rs267607204
hgdp	rs267607204
ensembl	rs267607204
geneview	rs267607204
scholar	rs267607204
google	rs267607204
pharmgkb	rs267607204
gwascentral	rs267607204
openSNP	rs267607204
23andMe	rs267607204
SNPshot	rs267607204
SNPdbe	rs267607204
MSV3d	rs267607204
GWAS Ctlg	rs267607204

Max Magnitude

6.7

KRIT1 gene, c.987C>A, p.Cys329Ter, C329X mutation

rs267607204(A) is considered a dominantly inherited pathogenic mutation for cerebral cavernous malformation.

ClinVar
Risk	rs267607204(A;A)
Alt	rs267607204(A;A)
Reference	Rs267607204(C;C)
Significance	Pathogenic
Disease	Cerebral cavernous malformations 1 Cerebral cavernous malformation
Variation	info
Gene	KRIT1
CLNDBN	Cerebral cavernous malformations 1 Cerebral cavernous malformation
Reversed	1
HGVS	NC_000007.13:g.91863765G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006082.3, RCV000239438.1,