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rs1057516576

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACGT;ACGT) 0 common in clinvar
Make rs1057516576(-;-)
Make rs1057516576(-;ACGT)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position46192096
GenePOMGNT1, TSPAN1
is asnp
is mentioned by
dbSNPrs1057516576
dbSNP (old)rs1057516576
ClinGenrs1057516576
ebirs1057516576
HLIrs1057516576
Exacrs1057516576
Gnomadrs1057516576
Varsomers1057516576
LitVarrs1057516576
Maprs1057516576
PheGenIrs1057516576
Biobankrs1057516576
1000 genomesrs1057516576
hgdprs1057516576
ensemblrs1057516576
gopubmedrs1057516576
geneviewrs1057516576
scholarrs1057516576
googlers1057516576
pharmgkbrs1057516576
gwascentralrs1057516576
openSNPrs1057516576
23andMers1057516576
23andMe allrs1057516576
SNPshotrs1057516576
SNPdbers1057516576
MSV3drs1057516576
GWAS Ctlgrs1057516576
Max Magnitude0
ClinVar
Risk rs1057516576(-;-)
Alt rs1057516576(-;-)
Reference Rs1057516576(ACGT;ACGT)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46657768_46657771delACGT
CLNSRC
CLNACC RCV000412386.1,