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rs367543074

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs367543074(A;A)
Make rs367543074(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position235465675
GeneB3GALNT2
is asnp
is mentioned by
dbSNPrs367543074
ebirs367543074
HLIrs367543074
Exacrs367543074
Varsomers367543074
Maprs367543074
PheGenIrs367543074
hapmaprs367543074
1000 genomesrs367543074
hgdprs367543074
ensemblrs367543074
gopubmedrs367543074
geneviewrs367543074
scholarrs367543074
googlers367543074
pharmgkbrs367543074
gwascentralrs367543074
openSNPrs367543074
23andMers367543074
23andMe allrs367543074
SNP Nexus

SNPshotrs367543074
SNPdbers367543074
MSV3drs367543074
GWAS Ctlgrs367543074
Max Magnitude0
ClinVar
Risk rs367543074(A;A)
Alt rs367543074(A;A)
Reference rs367543074(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.235628992C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000034848.5, RCV000119389.1,


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