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

rs386834019

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834019(A;A)
Make rs386834019(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position46189870
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834019
ebirs386834019
HLIrs386834019
Exacrs386834019
Varsomers386834019
Maprs386834019
PheGenIrs386834019
hapmaprs386834019
1000 genomesrs386834019
hgdprs386834019
ensemblrs386834019
gopubmedrs386834019
geneviewrs386834019
scholarrs386834019
googlers386834019
pharmgkbrs386834019
gwascentralrs386834019
openSNPrs386834019
23andMers386834019
23andMe allrs386834019
SNP Nexus

SNPshotrs386834019
SNPdbers386834019
MSV3drs386834019
GWAS Ctlgrs386834019
Max Magnitude0
ClinVar
Risk rs386834019(A,C;A,C)
Alt rs386834019(A,C;A,C)
Reference rs386834019(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.46655542C>T
CLNSRC ClinVar
CLNACC RCV000050000.2,


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