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rs1057517247

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517247(-;-)
Make rs1057517247(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position46194278
GenePOMGNT1, TSPAN1
is asnp
is mentioned by
dbSNPrs1057517247
dbSNP (old)rs1057517247
ClinGenrs1057517247
ebirs1057517247
HLIrs1057517247
Exacrs1057517247
Gnomadrs1057517247
Varsomers1057517247
Maprs1057517247
PheGenIrs1057517247
Biobankrs1057517247
1000 genomesrs1057517247
hgdprs1057517247
ensemblrs1057517247
gopubmedrs1057517247
geneviewrs1057517247
scholarrs1057517247
googlers1057517247
pharmgkbrs1057517247
gwascentralrs1057517247
openSNPrs1057517247
23andMers1057517247
23andMe allrs1057517247
SNPshotrs1057517247
SNPdbers1057517247
MSV3drs1057517247
GWAS Ctlgrs1057517247
Max Magnitude0
ClinVar
Risk rs1057517247(-;-)
Alt rs1057517247(-;-)
Reference Rs1057517247(A;A)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46659950delT
CLNSRC
CLNACC RCV000410756.1,