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rs1057516563

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516563(A;A)
Make rs1057516563(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position99880678
GeneAGL
is asnp
is mentioned by
dbSNPrs1057516563
dbSNP (old)rs1057516563
ClinGenrs1057516563
ebirs1057516563
HLIrs1057516563
Exacrs1057516563
Gnomadrs1057516563
Varsomers1057516563
Maprs1057516563
PheGenIrs1057516563
Biobankrs1057516563
1000 genomesrs1057516563
hgdprs1057516563
ensemblrs1057516563
gopubmedrs1057516563
geneviewrs1057516563
scholarrs1057516563
googlers1057516563
pharmgkbrs1057516563
gwascentralrs1057516563
openSNPrs1057516563
23andMers1057516563
23andMe allrs1057516563
SNPshotrs1057516563
SNPdbers1057516563
MSV3drs1057516563
GWAS Ctlgrs1057516563
Max Magnitude0
ClinVar
Risk rs1057516563(A;A)
Alt rs1057516563(A;A)
Reference Rs1057516563(C;C)
Significance Probable-Pathogenic
Disease Glycogen storage disease type III
Variation info
Gene AGL
CLNDBN Glycogen storage disease type III
Reversed 0
HGVS NC_000001.10:g.100346234C>A
CLNSRC
CLNACC RCV000410795.1,