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rs367543070

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs367543070(-;-)
Make rs367543070(-;TG)
ReferenceGRCh38 38.1/141
Chromosome1
Position235489220
GeneB3GALNT2
is asnp
is mentioned by
dbSNPrs367543070
ebirs367543070
HLIrs367543070
Exacrs367543070
Varsomers367543070
Maprs367543070
PheGenIrs367543070
hapmaprs367543070
1000 genomesrs367543070
hgdprs367543070
ensemblrs367543070
gopubmedrs367543070
geneviewrs367543070
scholarrs367543070
googlers367543070
pharmgkbrs367543070
gwascentralrs367543070
openSNPrs367543070
23andMers367543070
23andMe allrs367543070
SNP Nexus

SNPshotrs367543070
SNPdbers367543070
MSV3drs367543070
GWAS Ctlgrs367543070
Max Magnitude0
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 23453667OA-icon.png] Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan.