rs137853140

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	6.7	Cerebral Cavernous Malformation mutation

Make rs137853140(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

92235531

Gene

KRIT1

is a	snp
is	mentioned by
dbSNP	rs137853140
dbSNP (classic)	rs137853140
ClinGen	rs137853140
ebi	rs137853140
HLI	rs137853140
Exac	rs137853140
Gnomad	rs137853140
Varsome	rs137853140
LitVar	rs137853140
Map	rs137853140
PheGenI	rs137853140
Biobank	rs137853140
1000 genomes	rs137853140
hgdp	rs137853140
ensembl	rs137853140
geneview	rs137853140
scholar	rs137853140
google	rs137853140
pharmgkb	rs137853140
gwascentral	rs137853140
openSNP	rs137853140
23andMe	rs137853140
SNPshot	rs137853140
SNPdbe	rs137853140
MSV3d	rs137853140
GWAS Ctlg	rs137853140

Max Magnitude

6.7

aka c.601C>G (p.Gln201Glu)

OMIM	604214
Desc
Variant	0009
Related	also

ClinVar
Risk	rs137853140(G;G)
Alt	rs137853140(G;G)
Reference	Rs137853140(C;C)
Significance	Pathogenic
Disease	Cerebral cavernous malformations 1
Variation	info
Gene	KRIT1
CLNDBN	Cerebral cavernous malformations 1
Reversed	1
HGVS	NC_000007.13:g.91864845G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006080.3,