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rs1057516397

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516397(-;-)
Make rs1057516397(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position99862405
GeneAGL
is asnp
is mentioned by
dbSNPrs1057516397
dbSNP (classic)rs1057516397
ClinGenrs1057516397
ebirs1057516397
HLIrs1057516397
Exacrs1057516397
Gnomadrs1057516397
Varsomers1057516397
LitVarrs1057516397
Maprs1057516397
PheGenIrs1057516397
Biobankrs1057516397
1000 genomesrs1057516397
hgdprs1057516397
ensemblrs1057516397
geneviewrs1057516397
scholarrs1057516397
googlers1057516397
pharmgkbrs1057516397
gwascentralrs1057516397
openSNPrs1057516397
23andMers1057516397
SNPshotrs1057516397
SNPdbers1057516397
MSV3drs1057516397
GWAS Ctlgrs1057516397
Max Magnitude0
ClinVar
Risk rs1057516397(-;-)
Alt rs1057516397(-;-)
Reference Rs1057516397(A;A)
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.100327961delA
CLNSRC
CLNACC RCV000412473.1,