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rs386834012

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834012(A;G)
Make rs386834012(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position46192438
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834012
ebirs386834012
HLIrs386834012
Exacrs386834012
Varsomers386834012
Maprs386834012
PheGenIrs386834012
hapmaprs386834012
1000 genomesrs386834012
hgdprs386834012
ensemblrs386834012
gopubmedrs386834012
geneviewrs386834012
scholarrs386834012
googlers386834012
pharmgkbrs386834012
gwascentralrs386834012
openSNPrs386834012
23andMers386834012
23andMe allrs386834012
SNP Nexus

SNPshotrs386834012
SNPdbers386834012
MSV3drs386834012
GWAS Ctlgrs386834012
Max Magnitude0
ClinVar
Risk rs386834012(G;G)
Alt rs386834012(G;G)
Reference rs386834012(A;A)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46658110T>C
CLNSRC ClinVar
CLNACC RCV000049991.1,


[PMID 15466003OA-icon.png] POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.


[PMID 17030669] POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.


[PMID 19299310] Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.