rs374303823

Orientation

plus

Stabilized

plus

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

Make rs374303823(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92214762

Gene

KRIT1

is a	snp
is	mentioned by
dbSNP	rs374303823
dbSNP (classic)	rs374303823
ClinGen	rs374303823
ebi	rs374303823
HLI	rs374303823
Exac	rs374303823
Gnomad	rs374303823
Varsome	rs374303823
LitVar	rs374303823
Map	rs374303823
PheGenI	rs374303823
Biobank	rs374303823
1000 genomes	rs374303823
hgdp	rs374303823
ensembl	rs374303823
geneview	rs374303823
scholar	rs374303823
google	rs374303823
pharmgkb	rs374303823
gwascentral	rs374303823
openSNP	rs374303823
23andMe	rs374303823
SNPshot	rs374303823
SNPdbe	rs374303823
MSV3d	rs374303823
GWAS Ctlg	rs374303823

Max Magnitude

5.2

aka c.1579G>A (p.Ala527Thr)

ClinVar
Risk	rs374303823(G;G)
Alt	rs374303823(G;G)
Reference	Rs374303823(C;C)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	KRIT1
CLNDBN	not provided
Reversed	0
HGVS	NC_000007.13:g.91844076C>T
CLNSRC
CLNACC	RCV000494397.1,