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rs1057516545

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGAC;AGAC) 0 common in clinvar
Make rs1057516545(-;-)
Make rs1057516545(-;CAGA)
Make rs1057516545(CAGA;CAGA)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position99870488
GeneAGL
is asnp
is mentioned by
dbSNPrs1057516545
dbSNP (old)rs1057516545
ClinGenrs1057516545
ebirs1057516545
HLIrs1057516545
Exacrs1057516545
Gnomadrs1057516545
Varsomers1057516545
LitVarrs1057516545
Maprs1057516545
PheGenIrs1057516545
Biobankrs1057516545
1000 genomesrs1057516545
hgdprs1057516545
ensemblrs1057516545
gopubmedrs1057516545
geneviewrs1057516545
scholarrs1057516545
googlers1057516545
pharmgkbrs1057516545
gwascentralrs1057516545
openSNPrs1057516545
23andMers1057516545
23andMe allrs1057516545
SNPshotrs1057516545
SNPdbers1057516545
MSV3drs1057516545
GWAS Ctlgrs1057516545
Max Magnitude0
ClinVar
Risk rs1057516545(-;-)
Alt rs1057516545(-;-)
Reference Rs1057516545(AGAC;AGAC)
Significance Pathogenic
Disease Glycogen storage disease type III
Variation info
Gene AGL
CLNDBN Glycogen storage disease type III
Reversed 0
HGVS NC_000001.10:g.100336044_100336047delCAGA
CLNSRC
CLNACC RCV000409582.1,