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rs386834023

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTGA;GTGA) 0 common in clinvar
Make rs386834023(-;-)
Make rs386834023(-;GTGA)
ReferenceGRCh38 38.1/141
Chromosome1
Position46189454
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834023
ebirs386834023
HLIrs386834023
Exacrs386834023
Varsomers386834023
Maprs386834023
PheGenIrs386834023
hapmaprs386834023
1000 genomesrs386834023
hgdprs386834023
ensemblrs386834023
gopubmedrs386834023
geneviewrs386834023
scholarrs386834023
googlers386834023
pharmgkbrs386834023
gwascentralrs386834023
openSNPrs386834023
23andMers386834023
23andMe allrs386834023
SNP Nexus

SNPshotrs386834023
SNPdbers386834023
MSV3drs386834023
GWAS Ctlgrs386834023
Max Magnitude0
ClinVar
Risk rs386834023(;)
Alt rs386834023(;)
Reference rs386834023(GTGA;GTGA)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46655126_46655129delTCAC
CLNSRC ClinVar
CLNACC RCV000050007.1,


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