rs367543070

Orientation

minus

Stabilized

minus

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

Make rs367543070(-;-)

Make rs367543070(-;TG)

Reference

GRCh38 38.1/141

Chromosome

1

Position

235489220

Gene

B3GALNT2

is a	snp
is	mentioned by
dbSNP	rs367543070
dbSNP (classic)	rs367543070
ClinGen	rs367543070
ebi	rs367543070
HLI	rs367543070
Exac	rs367543070
Gnomad	rs367543070
Varsome	rs367543070
LitVar	rs367543070
Map	rs367543070
PheGenI	rs367543070
Biobank	rs367543070
1000 genomes	rs367543070
hgdp	rs367543070
ensembl	rs367543070
geneview	rs367543070
scholar	rs367543070
google	rs367543070
pharmgkb	rs367543070
gwascentral	rs367543070
openSNP	rs367543070
23andMe	rs367543070
SNPshot	rs367543070
SNPdbe	rs367543070
MSV3d	rs367543070
GWAS Ctlg	rs367543070

Max Magnitude

0

ClinVar
Risk	rs367543070(-;-)
Alt	rs367543070(-;-)
Reference	Rs367543070(TG;TG)
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.235652525_235652526delCA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000034846.6, RCV000119384.1,

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