rs1057517753

Orientation

minus

Stabilized

minus

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

Make rs1057517753(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92225770

Gene

KRIT1

is a	snp
is	mentioned by
dbSNP	rs1057517753
dbSNP (classic)	rs1057517753
ClinGen	rs1057517753
ebi	rs1057517753
HLI	rs1057517753
Exac	rs1057517753
Gnomad	rs1057517753
Varsome	rs1057517753
LitVar	rs1057517753
Map	rs1057517753
PheGenI	rs1057517753
Biobank	rs1057517753
1000 genomes	rs1057517753
hgdp	rs1057517753
ensembl	rs1057517753
geneview	rs1057517753
scholar	rs1057517753
google	rs1057517753
pharmgkb	rs1057517753
gwascentral	rs1057517753
openSNP	rs1057517753
23andMe	rs1057517753
SNPshot	rs1057517753
SNPdbe	rs1057517753
MSV3d	rs1057517753
GWAS Ctlg	rs1057517753

Max Magnitude

5.2

aka c.1201_1204delCAAA (p.Gln401Thrfs)

ClinVar
Risk	rs1057517753(-;-)
Alt	rs1057517753(-;-)
Reference	Rs1057517753(CAAA;CAAA)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	KRIT1
CLNDBN	not provided
Reversed	1
HGVS	NC_000007.13:g.91855084_91855087delTTTG
CLNSRC
CLNACC	RCV000414484.1,