rs869320680

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs869320680(-;-)

Make rs869320680(-;C)

Reference

GRCh38.p2 38.2/147

Chromosome

3

Position

49531254

Gene

DAG1

is a	snp
is	mentioned by
dbSNP	rs869320680
dbSNP (classic)	rs869320680
ClinGen	rs869320680
ebi	rs869320680
HLI	rs869320680
Exac	rs869320680
Gnomad	rs869320680
Varsome	rs869320680
LitVar	rs869320680
Map	rs869320680
PheGenI	rs869320680
Biobank	rs869320680
1000 genomes	rs869320680
hgdp	rs869320680
ensembl	rs869320680
geneview	rs869320680
scholar	rs869320680
google	rs869320680
pharmgkb	rs869320680
gwascentral	rs869320680
openSNP	rs869320680
23andMe	rs869320680
SNPshot	rs869320680
SNPdbe	rs869320680
MSV3d	rs869320680
GWAS Ctlg	rs869320680

Max Magnitude

0

ClinVar
Risk	rs869320680(-;-)
Alt	rs869320680(-;-)
Reference	Rs869320680(C;C)
Significance	Pathogenic
Disease	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation	info
Gene	DAG1
CLNDBN	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9
Reversed	0
HGVS	NC_000003.11:g.49568687delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000190548.3,