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rs1057517347

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517347(-;A)
Make rs1057517347(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position99861560
GeneAGL
is asnp
is mentioned by
dbSNPrs1057517347
dbSNP (old)rs1057517347
ClinGenrs1057517347
ebirs1057517347
HLIrs1057517347
Exacrs1057517347
Gnomadrs1057517347
Varsomers1057517347
Maprs1057517347
PheGenIrs1057517347
Biobankrs1057517347
1000 genomesrs1057517347
hgdprs1057517347
ensemblrs1057517347
gopubmedrs1057517347
geneviewrs1057517347
scholarrs1057517347
googlers1057517347
pharmgkbrs1057517347
gwascentralrs1057517347
openSNPrs1057517347
23andMers1057517347
23andMe allrs1057517347
SNPshotrs1057517347
SNPdbers1057517347
MSV3drs1057517347
GWAS Ctlgrs1057517347
Max Magnitude0
ClinVar
Risk rs1057517347(A;A)
Alt rs1057517347(A;A)
Reference Rs1057517347(-;-)
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.100327116dupA
CLNSRC
CLNACC RCV000409607.1,