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rs386834022

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834022(-;-)
Make rs386834022(-;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position46189477
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834022
ebirs386834022
HLIrs386834022
Exacrs386834022
Varsomers386834022
Maprs386834022
PheGenIrs386834022
hapmaprs386834022
1000 genomesrs386834022
hgdprs386834022
ensemblrs386834022
gopubmedrs386834022
geneviewrs386834022
scholarrs386834022
googlers386834022
pharmgkbrs386834022
gwascentralrs386834022
openSNPrs386834022
23andMers386834022
23andMe allrs386834022
SNP Nexus

SNPshotrs386834022
SNPdbers386834022
MSV3drs386834022
GWAS Ctlgrs386834022
Max Magnitude0
ClinVar
Risk rs386834022(;)
Alt rs386834022(;)
Reference rs386834022(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.46655149delC
CLNSRC ClinVar
CLNACC RCV000050004.2,


[PMID 11709191] Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.