rs367543073

Orientation

minus

Stabilized

minus

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

Make rs367543073(G;G)

Make rs367543073(G;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

235470857

Gene

B3GALNT2

is a	snp
is	mentioned by
dbSNP	rs367543073
dbSNP (classic)	rs367543073
ClinGen	rs367543073
ebi	rs367543073
HLI	rs367543073
Exac	rs367543073
Gnomad	rs367543073
Varsome	rs367543073
LitVar	rs367543073
Map	rs367543073
PheGenI	rs367543073
Biobank	rs367543073
1000 genomes	rs367543073
hgdp	rs367543073
ensembl	rs367543073
geneview	rs367543073
scholar	rs367543073
google	rs367543073
pharmgkb	rs367543073
gwascentral	rs367543073
openSNP	rs367543073
23andMe	rs367543073
SNPshot	rs367543073
SNPdbe	rs367543073
MSV3d	rs367543073
GWAS Ctlg	rs367543073

Max Magnitude

0

ClinVar
Risk	rs367543073(G;G)
Alt	rs367543073(G;G)
Reference	Rs367543073(T;T)
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.235634171A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000034847.5, RCV000119388.1,

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