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rs367543077

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs367543077(C;T)
Make rs367543077(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position235450286
GeneB3GALNT2
is asnp
is mentioned by
dbSNPrs367543077
ebirs367543077
HLIrs367543077
Exacrs367543077
Varsomers367543077
Maprs367543077
PheGenIrs367543077
hapmaprs367543077
1000 genomesrs367543077
hgdprs367543077
ensemblrs367543077
gopubmedrs367543077
geneviewrs367543077
scholarrs367543077
googlers367543077
pharmgkbrs367543077
gwascentralrs367543077
openSNPrs367543077
23andMers367543077
23andMe allrs367543077
SNP Nexus

SNPshotrs367543077
SNPdbers367543077
MSV3drs367543077
GWAS Ctlgrs367543077
Max Magnitude0
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 23453667OA-icon.png] Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan.