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rs387906245

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906245(-;-)
Make rs387906245(-;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position99916706
GeneAGL
is asnp
is mentioned by
dbSNPrs387906245
ebirs387906245
HLIrs387906245
Exacrs387906245
Varsomers387906245
Maprs387906245
PheGenIrs387906245
hapmaprs387906245
1000 genomesrs387906245
hgdprs387906245
ensemblrs387906245
gopubmedrs387906245
geneviewrs387906245
scholarrs387906245
googlers387906245
pharmgkbrs387906245
gwascentralrs387906245
openSNPrs387906245
23andMers387906245
23andMe allrs387906245
SNP Nexus

SNPshotrs387906245
SNPdbers387906245
MSV3drs387906245
GWAS Ctlgrs387906245
Max Magnitude0
ClinVar
Risk rs387906245(;)
Alt rs387906245(;)
Reference rs387906245(T;T)
Significance Pathogenic
Disease Glycogen storage disease IIIa Glycogen storage disease type III
Variation info
Gene AGL
CLNDBN Glycogen storage disease IIIa Glycogen storage disease type III
Reversed 0
HGVS NC_000001.10:g.100382262delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000001156.3, RCV000177731.2,