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rs1057517315

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517315(-;-)
Make rs1057517315(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position81705469
GeneGBE1
is asnp
is mentioned by
dbSNPrs1057517315
dbSNP (classic)rs1057517315
ClinGenrs1057517315
ebirs1057517315
HLIrs1057517315
Exacrs1057517315
Gnomadrs1057517315
Varsomers1057517315
LitVarrs1057517315
Maprs1057517315
PheGenIrs1057517315
Biobankrs1057517315
1000 genomesrs1057517315
hgdprs1057517315
ensemblrs1057517315
geneviewrs1057517315
scholarrs1057517315
googlers1057517315
pharmgkbrs1057517315
gwascentralrs1057517315
openSNPrs1057517315
23andMers1057517315
23andMe allrs1057517315
SNPshotrs1057517315
SNPdbers1057517315
MSV3drs1057517315
GWAS Ctlgrs1057517315
Max Magnitude0
ClinVar
Risk rs1057517315(-;-)
Alt rs1057517315(-;-)
Reference Rs1057517315(A;A)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene GBE1
CLNDBN Glycogen storage disease, type IV
Reversed 1
HGVS NC_000003.11:g.81754620delT
CLNSRC
CLNACC RCV000409231.1,