rs137853139

Orientation

minus

Stabilized

minus

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

Make rs137853139(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

92236488

Gene

KRIT1

is a	snp
is	mentioned by
dbSNP	rs137853139
dbSNP (classic)	rs137853139
ClinGen	rs137853139
ebi	rs137853139
HLI	rs137853139
Exac	rs137853139
Gnomad	rs137853139
Varsome	rs137853139
LitVar	rs137853139
Map	rs137853139
PheGenI	rs137853139
Biobank	rs137853139
1000 genomes	rs137853139
hgdp	rs137853139
ensembl	rs137853139
geneview	rs137853139
scholar	rs137853139
google	rs137853139
pharmgkb	rs137853139
gwascentral	rs137853139
openSNP	rs137853139
23andMe	rs137853139
SNPshot	rs137853139
SNPdbe	rs137853139
MSV3d	rs137853139
GWAS Ctlg	rs137853139

Max Magnitude

6.7

aka c.410A>G (p.Asp137Gly)

23andMe name: i5002514

OMIM	604214
Desc
Variant	0008
Related	also

ClinVar
Risk	rs137853139(G;G)
Alt	rs137853139(G;G)
Reference	Rs137853139(A;A)
Significance	Pathogenic
Disease	Cerebral cavernous malformations 1
Variation	info
Gene	KRIT1
CLNDBN	Cerebral cavernous malformations 1
Reversed	1
HGVS	NC_000007.13:g.91865802T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006079.3,