rs886041572

Orientation

minus

Stabilized

minus

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

Make rs886041572(T;T)

Chromosome

7

Position

92214655

Gene

KRIT1

is a	snp
is	mentioned by
dbSNP	rs886041572
dbSNP (classic)	rs886041572
ClinGen	rs886041572
ebi	rs886041572
HLI	rs886041572
Exac	rs886041572
Gnomad	rs886041572
Varsome	rs886041572
LitVar	rs886041572
Map	rs886041572
PheGenI	rs886041572
Biobank	rs886041572
1000 genomes	rs886041572
hgdp	rs886041572
ensembl	rs886041572
geneview	rs886041572
scholar	rs886041572
google	rs886041572
pharmgkb	rs886041572
gwascentral	rs886041572
openSNP	rs886041572
23andMe	rs886041572
SNPshot	rs886041572
SNPdbe	rs886041572
MSV3d	rs886041572
GWAS Ctlg	rs886041572

Max Magnitude

5.2

aka c.1685dupT (p.Tyr563Leufs)

ClinVar
Risk	rs886041572(T;T)
Alt	rs886041572(T;T)
Reference	Rs886041572(-;-)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	KRIT1
CLNDBN	not provided
Reversed	1
HGVS	NC_000007.13:g.91843970dupA
CLNSRC
CLNACC	RCV000291180.1,