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rs367543072

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs367543072(A;A)
Make rs367543072(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position235470872
GeneB3GALNT2
is asnp
is mentioned by
dbSNPrs367543072
ebirs367543072
HLIrs367543072
Exacrs367543072
Varsomers367543072
Maprs367543072
PheGenIrs367543072
hapmaprs367543072
1000 genomesrs367543072
hgdprs367543072
ensemblrs367543072
gopubmedrs367543072
geneviewrs367543072
scholarrs367543072
googlers367543072
pharmgkbrs367543072
gwascentralrs367543072
openSNPrs367543072
23andMers367543072
23andMe allrs367543072
SNP Nexus

SNPshotrs367543072
SNPdbers367543072
MSV3drs367543072
GWAS Ctlgrs367543072
Max Magnitude0
ClinVar
Risk rs367543072(A;A)
Alt rs367543072(A;A)
Reference rs367543072(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.235634186C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000034844.5, RCV000119387.1,


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