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rs367543076

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs367543076(C;C)
Make rs367543076(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position235458753
GeneB3GALNT2
is asnp
is mentioned by
dbSNPrs367543076
ebirs367543076
HLIrs367543076
Exacrs367543076
Varsomers367543076
Maprs367543076
PheGenIrs367543076
hapmaprs367543076
1000 genomesrs367543076
hgdprs367543076
ensemblrs367543076
gopubmedrs367543076
geneviewrs367543076
scholarrs367543076
googlers367543076
pharmgkbrs367543076
gwascentralrs367543076
openSNPrs367543076
23andMers367543076
23andMe allrs367543076
SNP Nexus

SNPshotrs367543076
SNPdbers367543076
MSV3drs367543076
GWAS Ctlgrs367543076
Max Magnitude0
ClinVar
Risk rs367543076(A,C;A,C)
Alt rs367543076(A,C;A,C)
Reference rs367543076(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.235622061C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000034845.5, RCV000119391.1,


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