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rs386834026

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834026(-;-)
Make rs386834026(-;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position46189325
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834026
ebirs386834026
HLIrs386834026
Exacrs386834026
Varsomers386834026
Maprs386834026
PheGenIrs386834026
hapmaprs386834026
1000 genomesrs386834026
hgdprs386834026
ensemblrs386834026
gopubmedrs386834026
geneviewrs386834026
scholarrs386834026
googlers386834026
pharmgkbrs386834026
gwascentralrs386834026
openSNPrs386834026
23andMers386834026
23andMe allrs386834026
SNP Nexus

SNPshotrs386834026
SNPdbers386834026
MSV3drs386834026
GWAS Ctlgrs386834026
Max Magnitude0
ClinVar
Risk rs386834026(;)
Alt rs386834026(;)
Reference rs386834026(T;T)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46654997delA
CLNSRC ClinVar
CLNACC RCV000050009.1,


[PMID 12588800] Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.