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rs386834011

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834011(C;C)
Make rs386834011(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position46192528
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834011
ebirs386834011
HLIrs386834011
Exacrs386834011
Varsomers386834011
Maprs386834011
PheGenIrs386834011
hapmaprs386834011
1000 genomesrs386834011
hgdprs386834011
ensemblrs386834011
gopubmedrs386834011
geneviewrs386834011
scholarrs386834011
googlers386834011
pharmgkbrs386834011
gwascentralrs386834011
openSNPrs386834011
23andMers386834011
23andMe allrs386834011
SNP Nexus

SNPshotrs386834011
SNPdbers386834011
MSV3drs386834011
GWAS Ctlgrs386834011
Max Magnitude0
ClinVar
Risk rs386834011(C;C)
Alt rs386834011(C;C)
Reference rs386834011(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.46658200C>G
CLNSRC ClinVar
CLNACC RCV000049990.1,


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