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rs1057516952

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516952(C;C)
Make rs1057516952(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position99891741
GeneAGL
is asnp
is mentioned by
dbSNPrs1057516952
dbSNP (old)rs1057516952
ClinGenrs1057516952
ebirs1057516952
HLIrs1057516952
Exacrs1057516952
Gnomadrs1057516952
Varsomers1057516952
LitVarrs1057516952
Maprs1057516952
PheGenIrs1057516952
Biobankrs1057516952
1000 genomesrs1057516952
hgdprs1057516952
ensemblrs1057516952
gopubmedrs1057516952
geneviewrs1057516952
scholarrs1057516952
googlers1057516952
pharmgkbrs1057516952
gwascentralrs1057516952
openSNPrs1057516952
23andMers1057516952
23andMe allrs1057516952
SNPshotrs1057516952
SNPdbers1057516952
MSV3drs1057516952
GWAS Ctlgrs1057516952
Max Magnitude0
ClinVar
Risk rs1057516952(C;C)
Alt rs1057516952(C;C)
Reference Rs1057516952(T;T)
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.100357297T>C
CLNSRC
CLNACC RCV000409012.1,