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rs1057516948

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516948(A;A)
Make rs1057516948(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position99875257
GeneAGL
is asnp
is mentioned by
dbSNPrs1057516948
dbSNP (old)rs1057516948
ClinGenrs1057516948
ebirs1057516948
HLIrs1057516948
Exacrs1057516948
Gnomadrs1057516948
Varsomers1057516948
LitVarrs1057516948
Maprs1057516948
PheGenIrs1057516948
Biobankrs1057516948
1000 genomesrs1057516948
hgdprs1057516948
ensemblrs1057516948
gopubmedrs1057516948
geneviewrs1057516948
scholarrs1057516948
googlers1057516948
pharmgkbrs1057516948
gwascentralrs1057516948
openSNPrs1057516948
23andMers1057516948
23andMe allrs1057516948
SNPshotrs1057516948
SNPdbers1057516948
MSV3drs1057516948
GWAS Ctlgrs1057516948
Max Magnitude0
ClinVar
Risk rs1057516948(A;A)
Alt rs1057516948(A;A)
Reference Rs1057516948(G;G)
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.100340813G>A
CLNSRC
CLNACC RCV000412479.1,