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rs386834016

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834016(A;G)
Make rs386834016(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position46190786
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834016
ebirs386834016
HLIrs386834016
Exacrs386834016
Varsomers386834016
Maprs386834016
PheGenIrs386834016
hapmaprs386834016
1000 genomesrs386834016
hgdprs386834016
ensemblrs386834016
gopubmedrs386834016
geneviewrs386834016
scholarrs386834016
googlers386834016
pharmgkbrs386834016
gwascentralrs386834016
openSNPrs386834016
23andMers386834016
23andMe allrs386834016
SNP Nexus

SNPshotrs386834016
SNPdbers386834016
MSV3drs386834016
GWAS Ctlgrs386834016
Max Magnitude0
ClinVar
Risk rs386834016(G;G)
Alt rs386834016(G;G)
Reference rs386834016(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.46656458T>C
CLNSRC ClinVar
CLNACC RCV000049997.1,


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