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rs267606962

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606962(C;C)
Make rs267606962(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position46189539
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs267606962
ebirs267606962
HLIrs267606962
Exacrs267606962
Varsomers267606962
Maprs267606962
PheGenIrs267606962
hapmaprs267606962
1000 genomesrs267606962
hgdprs267606962
ensemblrs267606962
gopubmedrs267606962
geneviewrs267606962
scholarrs267606962
googlers267606962
pharmgkbrs267606962
gwascentralrs267606962
openSNPrs267606962
23andMers267606962
23andMe allrs267606962
SNP Nexus

SNPshotrs267606962
SNPdbers267606962
MSV3drs267606962
GWAS Ctlgrs267606962
Max Magnitude0
ClinVar
Risk rs267606962(A,C;A,C)
Alt rs267606962(A,C;A,C)
Reference rs267606962(G;G)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with mental retardation Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46655211C>G; NC_000001.10:g.46655211C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004205.3, RCV000050002.2,


[PMID 17906881] Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.


[PMID 20215985OA-icon.png] Muscle-Eye-Brain disease.