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rs386834031

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834031(-;-)
Make rs386834031(-;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position46194903
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834031
ebirs386834031
HLIrs386834031
Exacrs386834031
Varsomers386834031
Maprs386834031
PheGenIrs386834031
hapmaprs386834031
1000 genomesrs386834031
hgdprs386834031
ensemblrs386834031
gopubmedrs386834031
geneviewrs386834031
scholarrs386834031
googlers386834031
pharmgkbrs386834031
gwascentralrs386834031
openSNPrs386834031
23andMers386834031
23andMe allrs386834031
SNP Nexus

SNPshotrs386834031
SNPdbers386834031
MSV3drs386834031
GWAS Ctlgrs386834031
Max Magnitude0
ClinVar
Risk rs386834031(;)
Alt rs386834031(;)
Reference rs386834031(G;G)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46660575delC
CLNSRC ClinVar
CLNACC RCV000050014.1,


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