rs367543077

Orientation

minus

Stabilized

minus

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

Make rs367543077(C;T)

Make rs367543077(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

235450286

Gene

B3GALNT2

is a	snp
is	mentioned by
dbSNP	rs367543077
dbSNP (classic)	rs367543077
ClinGen	rs367543077
ebi	rs367543077
HLI	rs367543077
Exac	rs367543077
Gnomad	rs367543077
Varsome	rs367543077
LitVar	rs367543077
Map	rs367543077
PheGenI	rs367543077
Biobank	rs367543077
1000 genomes	rs367543077
hgdp	rs367543077
ensembl	rs367543077
geneview	rs367543077
scholar	rs367543077
google	rs367543077
pharmgkb	rs367543077
gwascentral	rs367543077
openSNP	rs367543077
23andMe	rs367543077
SNPshot	rs367543077
SNPdbe	rs367543077
MSV3d	rs367543077
GWAS Ctlg	rs367543077

Max Magnitude

0

ClinVar
Risk	rs367543077(T;T)
Alt	rs367543077(T;T)
Reference	Rs367543077(C;C)
Significance	Pathogenic
Disease	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) not provided
Variation	info
Gene	B3GALNT2
CLNDBN	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 not provided
Reversed	1
HGVS	NC_000001.10:g.235613601G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000034849.4, RCV000119383.1,

[PMID 23453667] Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan.