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rs386834027

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834027(-;-)
Make rs386834027(-;C)
Make rs386834027(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position46197796
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834027
ebirs386834027
HLIrs386834027
Exacrs386834027
Varsomers386834027
Maprs386834027
PheGenIrs386834027
hapmaprs386834027
1000 genomesrs386834027
hgdprs386834027
ensemblrs386834027
gopubmedrs386834027
geneviewrs386834027
scholarrs386834027
googlers386834027
pharmgkbrs386834027
gwascentralrs386834027
openSNPrs386834027
23andMers386834027
23andMe allrs386834027
SNP Nexus

SNPshotrs386834027
SNPdbers386834027
MSV3drs386834027
GWAS Ctlgrs386834027
Max Magnitude0
ClinVar
Risk rs386834027(C;C)
Alt rs386834027(C;C)
Reference rs386834027(;)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46663469dupG
CLNSRC ClinVar
CLNACC RCV000050010.1,


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