rs886041557

Orientation

minus

Stabilized

minus

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

Make rs886041557(-;-)

Chromosome

7

Position

92225770

Gene

KRIT1

is a	snp
is	mentioned by
dbSNP	rs886041557
dbSNP (classic)	rs886041557
ClinGen	rs886041557
ebi	rs886041557
HLI	rs886041557
Exac	rs886041557
Gnomad	rs886041557
Varsome	rs886041557
LitVar	rs886041557
Map	rs886041557
PheGenI	rs886041557
Biobank	rs886041557
1000 genomes	rs886041557
hgdp	rs886041557
ensembl	rs886041557
geneview	rs886041557
scholar	rs886041557
google	rs886041557
pharmgkb	rs886041557
gwascentral	rs886041557
openSNP	rs886041557
23andMe	rs886041557
SNPshot	rs886041557
SNPdbe	rs886041557
MSV3d	rs886041557
GWAS Ctlg	rs886041557

Max Magnitude

5.2

aka c.1192_1204delGAAAACAAACAAA (p.Glu398Thrfs)

ClinVar
Risk	rs886041557(-;-)
Alt	rs886041557(-;-)
Reference	Rs886041557(GAAAACAAACAAA;GAAAACAAACAAA)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	KRIT1
CLNDBN	not provided
Reversed	1
HGVS	NC_000007.13:g.91855084_91855096delTTTGTTTGTTTTC
CLNSRC
CLNACC	RCV000318088.1,