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rs367543073

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs367543073(G;G)
Make rs367543073(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position235470857
GeneB3GALNT2
is asnp
is mentioned by
dbSNPrs367543073
ClinGenrs367543073
ebirs367543073
HLIrs367543073
Exacrs367543073
Varsomers367543073
Maprs367543073
PheGenIrs367543073
hapmaprs367543073
1000 genomesrs367543073
hgdprs367543073
ensemblrs367543073
gopubmedrs367543073
geneviewrs367543073
scholarrs367543073
googlers367543073
pharmgkbrs367543073
gwascentralrs367543073
openSNPrs367543073
23andMers367543073
23andMe allrs367543073
SNP Nexus

SNPshotrs367543073
SNPdbers367543073
MSV3drs367543073
GWAS Ctlgrs367543073
Max Magnitude0
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 23453667OA-icon.png] Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan.