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rs387906246

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906246(-;-)
Make rs387906246(-;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position99881175
GeneAGL
is asnp
is mentioned by
dbSNPrs387906246
dbSNP (classic)rs387906246
ClinGenrs387906246
ebirs387906246
HLIrs387906246
Exacrs387906246
Gnomadrs387906246
Varsomers387906246
LitVarrs387906246
Maprs387906246
PheGenIrs387906246
Biobankrs387906246
1000 genomesrs387906246
hgdprs387906246
ensemblrs387906246
geneviewrs387906246
scholarrs387906246
googlers387906246
pharmgkbrs387906246
gwascentralrs387906246
openSNPrs387906246
23andMers387906246
SNPshotrs387906246
SNPdbers387906246
MSV3drs387906246
GWAS Ctlgrs387906246
Max Magnitude0
ClinVar
Risk rs387906246(-;-)
Alt rs387906246(-;-)
Reference Rs387906246(C;C)
Significance Pathogenic
Disease Glycogen storage disease IIIb
Variation info
Gene AGL
CLNDBN Glycogen storage disease IIIb
Reversed 0
HGVS NC_000001.10:g.100346731delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000001163.4,