rs886043300

Orientation

plus

Stabilized

plus

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

Make rs886043300(A;A)

Chromosome

7

Position

92235417

Gene

KRIT1

is a	snp
is	mentioned by
dbSNP	rs886043300
dbSNP (classic)	rs886043300
ClinGen	rs886043300
ebi	rs886043300
HLI	rs886043300
Exac	rs886043300
Gnomad	rs886043300
Varsome	rs886043300
LitVar	rs886043300
Map	rs886043300
PheGenI	rs886043300
Biobank	rs886043300
1000 genomes	rs886043300
hgdp	rs886043300
ensembl	rs886043300
geneview	rs886043300
scholar	rs886043300
google	rs886043300
pharmgkb	rs886043300
gwascentral	rs886043300
openSNP	rs886043300
23andMe	rs886043300
SNPshot	rs886043300
SNPdbe	rs886043300
MSV3d	rs886043300
GWAS Ctlg	rs886043300

Max Magnitude

5.2

aka c.715C>T (p.Gln239Ter)

ClinVar
Risk	rs886043300(A;A)
Alt	rs886043300(A;A)
Reference	Rs886043300(G;G)
Significance	Pathogenic
Disease	Cerebral cavernous malformation
Variation	info
Gene	KRIT1
CLNDBN	Cerebral cavernous malformation
Reversed	0
HGVS	NC_000007.13:g.91864731G>A
CLNSRC
CLNACC	RCV000392041.1,