rs886039400

Orientation

minus

Stabilized

minus

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

Make rs886039400(-;-)

Reference

GRCh38.p7 38.3/149

Chromosome

7

Position

92241100

Gene

KRIT1

is a	snp
is	mentioned by
dbSNP	rs886039400
dbSNP (classic)	rs886039400
ClinGen	rs886039400
ebi	rs886039400
HLI	rs886039400
Exac	rs886039400
Gnomad	rs886039400
Varsome	rs886039400
LitVar	rs886039400
Map	rs886039400
PheGenI	rs886039400
Biobank	rs886039400
1000 genomes	rs886039400
hgdp	rs886039400
ensembl	rs886039400
geneview	rs886039400
scholar	rs886039400
google	rs886039400
pharmgkb	rs886039400
gwascentral	rs886039400
openSNP	rs886039400
23andMe	rs886039400
SNPshot	rs886039400
SNPdbe	rs886039400
MSV3d	rs886039400
GWAS Ctlg	rs886039400

Max Magnitude

5.2

aka c.152_155delAAGT (p.Lys51Ilefs)

ClinVar
Risk	rs886039400(-;-)
Alt	rs886039400(-;-)
Reference	Rs886039400(AAGT;AAGT)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	KRIT1
CLNDBN	not provided
Reversed	1
HGVS	NC_000007.13:g.91870414_91870417delACTT
CLNSRC
CLNACC	RCV000255933.1,