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rs386834040

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs386834040(-;G)
Make rs386834040(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position46193607
GenePOMGNT1, TSPAN1
is asnp
is mentioned by
dbSNPrs386834040
dbSNP (old)rs386834040
ClinGenrs386834040
ebirs386834040
HLIrs386834040
Exacrs386834040
Gnomadrs386834040
Varsomers386834040
Maprs386834040
PheGenIrs386834040
Biobankrs386834040
1000 genomesrs386834040
hgdprs386834040
ensemblrs386834040
gopubmedrs386834040
geneviewrs386834040
scholarrs386834040
googlers386834040
pharmgkbrs386834040
gwascentralrs386834040
openSNPrs386834040
23andMers386834040
23andMe allrs386834040
SNP Nexus

SNPshotrs386834040
SNPdbers386834040
MSV3drs386834040
GWAS Ctlgrs386834040
Max Magnitude0
ClinVar
Risk rs386834040(G;G)
Alt rs386834040(G;G)
Reference Rs386834040(-;-)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46659280dupC
CLNSRC ClinVar
CLNACC RCV000050024.2,


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