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rs1057516513

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516513(A;A)
Make rs1057516513(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position99900635
GeneAGL
is asnp
is mentioned by
dbSNPrs1057516513
dbSNP (old)rs1057516513
ClinGenrs1057516513
ebirs1057516513
HLIrs1057516513
Exacrs1057516513
Gnomadrs1057516513
Varsomers1057516513
LitVarrs1057516513
Maprs1057516513
PheGenIrs1057516513
Biobankrs1057516513
1000 genomesrs1057516513
hgdprs1057516513
ensemblrs1057516513
gopubmedrs1057516513
geneviewrs1057516513
scholarrs1057516513
googlers1057516513
pharmgkbrs1057516513
gwascentralrs1057516513
openSNPrs1057516513
23andMers1057516513
23andMe allrs1057516513
SNPshotrs1057516513
SNPdbers1057516513
MSV3drs1057516513
GWAS Ctlgrs1057516513
Max Magnitude0
ClinVar
Risk rs1057516513(A;A)
Alt rs1057516513(A;A)
Reference Rs1057516513(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.100366191G>A
CLNSRC
CLNACC RCV000409092.1,