rs886039571

Orientation

minus

Stabilized

minus

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

Make rs886039571(G;G)

Reference

GRCh38.p7 38.3/149

Chromosome

7

Position

92213981

Gene

KRIT1

is a	snp
is	mentioned by
dbSNP	rs886039571
dbSNP (classic)	rs886039571
ClinGen	rs886039571
ebi	rs886039571
HLI	rs886039571
Exac	rs886039571
Gnomad	rs886039571
Varsome	rs886039571
LitVar	rs886039571
Map	rs886039571
PheGenI	rs886039571
Biobank	rs886039571
1000 genomes	rs886039571
hgdp	rs886039571
ensembl	rs886039571
geneview	rs886039571
scholar	rs886039571
google	rs886039571
pharmgkb	rs886039571
gwascentral	rs886039571
openSNP	rs886039571
23andMe	rs886039571
SNPshot	rs886039571
SNPdbe	rs886039571
MSV3d	rs886039571
GWAS Ctlg	rs886039571

Max Magnitude

5.2

aka c.1731-2A>G

ClinVar
Risk	rs886039571(G;G)
Alt	rs886039571(G;G)
Reference	Rs886039571(A;A)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	KRIT1
CLNDBN	not provided
Reversed	1
HGVS	NC_000007.13:g.91843295T>C
CLNSRC
CLNACC	RCV000255059.1,