rs1057521140

Orientation

minus

Stabilized

minus

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

Make rs1057521140(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92237721

Gene

KRIT1

is a	snp
is	mentioned by
dbSNP	rs1057521140
dbSNP (classic)	rs1057521140
ClinGen	rs1057521140
ebi	rs1057521140
HLI	rs1057521140
Exac	rs1057521140
Gnomad	rs1057521140
Varsome	rs1057521140
LitVar	rs1057521140
Map	rs1057521140
PheGenI	rs1057521140
Biobank	rs1057521140
1000 genomes	rs1057521140
hgdp	rs1057521140
ensembl	rs1057521140
geneview	rs1057521140
scholar	rs1057521140
google	rs1057521140
pharmgkb	rs1057521140
gwascentral	rs1057521140
openSNP	rs1057521140
23andMe	rs1057521140
SNPshot	rs1057521140
SNPdbe	rs1057521140
MSV3d	rs1057521140
GWAS Ctlg	rs1057521140

Max Magnitude

5.2

aka c.301G>A (p.Gly101Arg)

ClinVar
Risk	rs1057521140(A;A)
Alt	rs1057521140(A;A)
Reference	Rs1057521140(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	KRIT1
CLNDBN	not provided
Reversed	1
HGVS	NC_000007.13:g.91867035C>T
CLNSRC
CLNACC	RCV000427958.1,