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rs1057516478

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTGG;CTGG) 0 common in clinvar
Make rs1057516478(CTGG;GTGA)
Make rs1057516478(GTGA;GTGA)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position46197759
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs1057516478
dbSNP (old)rs1057516478
ClinGenrs1057516478
ebirs1057516478
HLIrs1057516478
Exacrs1057516478
Gnomadrs1057516478
Varsomers1057516478
LitVarrs1057516478
Maprs1057516478
PheGenIrs1057516478
Biobankrs1057516478
1000 genomesrs1057516478
hgdprs1057516478
ensemblrs1057516478
gopubmedrs1057516478
geneviewrs1057516478
scholarrs1057516478
googlers1057516478
pharmgkbrs1057516478
gwascentralrs1057516478
openSNPrs1057516478
23andMers1057516478
23andMe allrs1057516478
SNPshotrs1057516478
SNPdbers1057516478
MSV3drs1057516478
GWAS Ctlgrs1057516478
Max Magnitude0
ClinVar
Risk rs1057516478(GTGA;GTGA)
Alt rs1057516478(GTGA;GTGA)
Reference Rs1057516478(CTGG;CTGG)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46663431_46663434delCCAGinsTCAC
CLNSRC
CLNACC RCV000410976.1,