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rs1057517344

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517344(-;-)
Make rs1057517344(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position99862400
GeneAGL
is asnp
is mentioned by
dbSNPrs1057517344
dbSNP (old)rs1057517344
ClinGenrs1057517344
ebirs1057517344
HLIrs1057517344
Exacrs1057517344
Gnomadrs1057517344
Varsomers1057517344
Maprs1057517344
PheGenIrs1057517344
Biobankrs1057517344
1000 genomesrs1057517344
hgdprs1057517344
ensemblrs1057517344
gopubmedrs1057517344
geneviewrs1057517344
scholarrs1057517344
googlers1057517344
pharmgkbrs1057517344
gwascentralrs1057517344
openSNPrs1057517344
23andMers1057517344
23andMe allrs1057517344
SNPshotrs1057517344
SNPdbers1057517344
MSV3drs1057517344
GWAS Ctlgrs1057517344
Max Magnitude0
ClinVar
Risk rs1057517344(-;-)
Alt rs1057517344(-;-)
Reference Rs1057517344(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.100327956delG
CLNSRC
CLNACC RCV000410655.1,