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rs1057516870

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516870(C;T)
Make rs1057516870(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position99851064
GeneAGL
is asnp
is mentioned by
dbSNPrs1057516870
dbSNP (classic)rs1057516870
ClinGenrs1057516870
ebirs1057516870
HLIrs1057516870
Exacrs1057516870
Gnomadrs1057516870
Varsomers1057516870
LitVarrs1057516870
Maprs1057516870
PheGenIrs1057516870
Biobankrs1057516870
1000 genomesrs1057516870
hgdprs1057516870
ensemblrs1057516870
geneviewrs1057516870
scholarrs1057516870
googlers1057516870
pharmgkbrs1057516870
gwascentralrs1057516870
openSNPrs1057516870
23andMers1057516870
23andMe allrs1057516870
SNPshotrs1057516870
SNPdbers1057516870
MSV3drs1057516870
GWAS Ctlgrs1057516870
Max Magnitude0
ClinVar
Risk rs1057516870(T;T)
Alt rs1057516870(T;T)
Reference Rs1057516870(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.100316620C>T
CLNSRC
CLNACC RCV000410062.1,