rs367543072

Orientation

minus

Stabilized

minus

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

Make rs367543072(A;A)

Make rs367543072(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

235470872

Gene

B3GALNT2

is a	snp
is	mentioned by
dbSNP	rs367543072
dbSNP (classic)	rs367543072
ClinGen	rs367543072
ebi	rs367543072
HLI	rs367543072
Exac	rs367543072
Gnomad	rs367543072
Varsome	rs367543072
LitVar	rs367543072
Map	rs367543072
PheGenI	rs367543072
Biobank	rs367543072
1000 genomes	rs367543072
hgdp	rs367543072
ensembl	rs367543072
geneview	rs367543072
scholar	rs367543072
google	rs367543072
pharmgkb	rs367543072
gwascentral	rs367543072
openSNP	rs367543072
23andMe	rs367543072
SNPshot	rs367543072
SNPdbe	rs367543072
MSV3d	rs367543072
GWAS Ctlg	rs367543072

Max Magnitude

0

ClinVar
Risk	rs367543072(A;A)
Alt	rs367543072(A;A)
Reference	Rs367543072(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.235634186C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000034844.5, RCV000119387.1,

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