rs1057517752

Orientation

minus

Stabilized

minus

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

Make rs1057517752(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92234525

Gene

KRIT1

is a	snp
is	mentioned by
dbSNP	rs1057517752
dbSNP (classic)	rs1057517752
ClinGen	rs1057517752
ebi	rs1057517752
HLI	rs1057517752
Exac	rs1057517752
Gnomad	rs1057517752
Varsome	rs1057517752
LitVar	rs1057517752
Map	rs1057517752
PheGenI	rs1057517752
Biobank	rs1057517752
1000 genomes	rs1057517752
hgdp	rs1057517752
ensembl	rs1057517752
geneview	rs1057517752
scholar	rs1057517752
google	rs1057517752
pharmgkb	rs1057517752
gwascentral	rs1057517752
openSNP	rs1057517752
23andMe	rs1057517752
SNPshot	rs1057517752
SNPdbe	rs1057517752
MSV3d	rs1057517752
GWAS Ctlg	rs1057517752

Max Magnitude

5.2

aka c.907_913delTTACTAA (p.Leu303Alafs)

ClinVar
Risk	rs1057517752(-;-)
Alt	rs1057517752(-;-)
Reference	Rs1057517752(TTACTAA;TTACTAA)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	KRIT1
CLNDBN	not provided
Reversed	1
HGVS	NC_000007.13:g.91863839_91863845delTTAGTAA
CLNSRC
CLNACC	RCV000413826.1,