rs367543076

Orientation

minus

Stabilized

minus

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

Make rs367543076(C;C)

Make rs367543076(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

235458753

Gene

B3GALNT2

is a	snp
is	mentioned by
dbSNP	rs367543076
dbSNP (classic)	rs367543076
ClinGen	rs367543076
ebi	rs367543076
HLI	rs367543076
Exac	rs367543076
Gnomad	rs367543076
Varsome	rs367543076
LitVar	rs367543076
Map	rs367543076
PheGenI	rs367543076
Biobank	rs367543076
1000 genomes	rs367543076
hgdp	rs367543076
ensembl	rs367543076
geneview	rs367543076
scholar	rs367543076
google	rs367543076
pharmgkb	rs367543076
gwascentral	rs367543076
openSNP	rs367543076
23andMe	rs367543076
SNPshot	rs367543076
SNPdbe	rs367543076
MSV3d	rs367543076
GWAS Ctlg	rs367543076

Max Magnitude

0

ClinVar
Risk	rs367543076(A;A) rs367543076(C;C)
Alt	rs367543076(A;A) rs367543076(C;C)
Reference	Rs367543076(G;G)
Significance	Other
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.235622061C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000034845.5, RCV000119391.1,

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