rs886039659

Orientation

minus

Stabilized

minus

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

Make rs886039659(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

7

Position

92234851

Gene

KRIT1

is a	snp
is	mentioned by
dbSNP	rs886039659
dbSNP (classic)	rs886039659
ClinGen	rs886039659
ebi	rs886039659
HLI	rs886039659
Exac	rs886039659
Gnomad	rs886039659
Varsome	rs886039659
LitVar	rs886039659
Map	rs886039659
PheGenI	rs886039659
Biobank	rs886039659
1000 genomes	rs886039659
hgdp	rs886039659
ensembl	rs886039659
geneview	rs886039659
scholar	rs886039659
google	rs886039659
pharmgkb	rs886039659
gwascentral	rs886039659
openSNP	rs886039659
23andMe	rs886039659
SNPshot	rs886039659
SNPdbe	rs886039659
MSV3d	rs886039659
GWAS Ctlg	rs886039659

Max Magnitude

5.2

aka c.802C>T (p.Gln268Ter)

ClinVar
Risk	rs886039659(T;T)
Alt	rs886039659(T;T)
Reference	Rs886039659(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	KRIT1
CLNDBN	not provided
Reversed	1
HGVS	NC_000007.13:g.91864165G>A
CLNSRC
CLNACC	RCV000255382.1,