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rs794727255

From SNPedia

Orientationplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs794727255(-;-)
Make rs794727255(-;GA)
Make rs794727255(GA;GA)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position99851060
GeneAGL
is asnp
is mentioned by
dbSNPrs794727255
ebirs794727255
HLIrs794727255
Exacrs794727255
Varsomers794727255
Maprs794727255
PheGenIrs794727255
hapmaprs794727255
1000 genomesrs794727255
hgdprs794727255
ensemblrs794727255
gopubmedrs794727255
geneviewrs794727255
scholarrs794727255
googlers794727255
pharmgkbrs794727255
gwascentralrs794727255
openSNPrs794727255
23andMers794727255
23andMe allrs794727255
SNP Nexus

SNPshotrs794727255
SNPdbers794727255
MSV3drs794727255
GWAS Ctlgrs794727255
Max Magnitude0
ClinVar
Risk rs794727255(;)
Alt rs794727255(;)
Reference rs794727255(AG;AG)
Significance Pathogenic
Disease Glycogen storage disease IIIb Glycogen storage disease type III
Variation info
Gene AGL
CLNDBN Glycogen storage disease IIIb Glycogen storage disease type III
Reversed 0
HGVS NC_000001.10:g.100316616_100316617delGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000001155.3, RCV000175637.2,