rs886039572

Orientation

minus

Stabilized

minus

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

Make rs886039572(-;-)

Reference

GRCh38.p7 38.3/149

Chromosome

7

Position

92213903

Gene

KRIT1

is a	snp
is	mentioned by
dbSNP	rs886039572
dbSNP (classic)	rs886039572
ClinGen	rs886039572
ebi	rs886039572
HLI	rs886039572
Exac	rs886039572
Gnomad	rs886039572
Varsome	rs886039572
LitVar	rs886039572
Map	rs886039572
PheGenI	rs886039572
Biobank	rs886039572
1000 genomes	rs886039572
hgdp	rs886039572
ensembl	rs886039572
geneview	rs886039572
scholar	rs886039572
google	rs886039572
pharmgkb	rs886039572
gwascentral	rs886039572
openSNP	rs886039572
23andMe	rs886039572
SNPshot	rs886039572
SNPdbe	rs886039572
MSV3d	rs886039572
GWAS Ctlg	rs886039572

Max Magnitude

5.2

aka c.1807delC (p.His603Metfs)

ClinVar
Risk	rs886039572(-;-)
Alt	rs886039572(-;-)
Reference	Rs886039572(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	KRIT1
CLNDBN	not provided
Reversed	1
HGVS	NC_000007.13:g.91843217delG
CLNSRC
CLNACC	RCV000255125.1,