rs1057518665

Orientation

minus

Stabilized

minus

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

Make rs1057518665(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92241108

Gene

KRIT1

is a	snp
is	mentioned by
dbSNP	rs1057518665
dbSNP (classic)	rs1057518665
ClinGen	rs1057518665
ebi	rs1057518665
HLI	rs1057518665
Exac	rs1057518665
Gnomad	rs1057518665
Varsome	rs1057518665
LitVar	rs1057518665
Map	rs1057518665
PheGenI	rs1057518665
Biobank	rs1057518665
1000 genomes	rs1057518665
hgdp	rs1057518665
ensembl	rs1057518665
geneview	rs1057518665
scholar	rs1057518665
google	rs1057518665
pharmgkb	rs1057518665
gwascentral	rs1057518665
openSNP	rs1057518665
23andMe	rs1057518665
SNPshot	rs1057518665
SNPdbe	rs1057518665
MSV3d	rs1057518665
GWAS Ctlg	rs1057518665

Max Magnitude

5.2

aka c.146_147delGA (p.Arg49Lysfs)

ClinVar
Risk	rs1057518665(-;-)
Alt	rs1057518665(-;-)
Reference	Rs1057518665(GA;GA)
Significance	Probable-Pathogenic
Disease	Cerebral cavernous malformation
Variation	info
Gene	KRIT1
CLNDBN	Cerebral cavernous malformation
Reversed	1
HGVS	NC_000007.13:g.91870422_91870423delTC
CLNSRC
CLNACC	RCV000415415.1,