Have questions? Visit https://www.reddit.com/r/SNPedia

rs386834018

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834018(C;T)
Make rs386834018(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position46189901
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834018
ebirs386834018
HLIrs386834018
Exacrs386834018
Varsomers386834018
Maprs386834018
PheGenIrs386834018
hapmaprs386834018
1000 genomesrs386834018
hgdprs386834018
ensemblrs386834018
gopubmedrs386834018
geneviewrs386834018
scholarrs386834018
googlers386834018
pharmgkbrs386834018
gwascentralrs386834018
openSNPrs386834018
23andMers386834018
23andMe allrs386834018
SNP Nexus

SNPshotrs386834018
SNPdbers386834018
MSV3drs386834018
GWAS Ctlgrs386834018
Max Magnitude0
ClinVar
Risk rs386834018(T;T)
Alt rs386834018(T;T)
Reference rs386834018(C;C)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46655573G>A
CLNSRC ClinVar
CLNACC RCV000049999.2,


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