rs965713946

Orientation

plus

Stabilized

plus

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

Make rs965713946(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92235648

Gene

KRIT1

is a	snp
is	mentioned by
dbSNP	rs965713946
dbSNP (classic)	rs965713946
ClinGen	rs965713946
ebi	rs965713946
HLI	rs965713946
Exac	rs965713946
Gnomad	rs965713946
Varsome	rs965713946
LitVar	rs965713946
Map	rs965713946
PheGenI	rs965713946
Biobank	rs965713946
1000 genomes	rs965713946
hgdp	rs965713946
ensembl	rs965713946
geneview	rs965713946
scholar	rs965713946
google	rs965713946
pharmgkb	rs965713946
gwascentral	rs965713946
openSNP	rs965713946
23andMe	rs965713946
SNPshot	rs965713946
SNPdbe	rs965713946
MSV3d	rs965713946
GWAS Ctlg	rs965713946

Max Magnitude

5.2

aka c.486-2A>G

ClinVar
Risk	rs965713946(C;C)
Alt	rs965713946(C;C)
Reference	Rs965713946(T;T)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	KRIT1
CLNDBN	not provided
Reversed	0
HGVS	NC_000007.13:g.91864962T>C
CLNSRC
CLNACC	RCV000422186.1,