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rs387906244

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs387906244(-;-)
Make rs387906244(-;A)
Make rs387906244(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position99921581
GeneAGL
is asnp
is mentioned by
dbSNPrs387906244
ebirs387906244
HLIrs387906244
Exacrs387906244
Varsomers387906244
Maprs387906244
PheGenIrs387906244
hapmaprs387906244
1000 genomesrs387906244
hgdprs387906244
ensemblrs387906244
gopubmedrs387906244
geneviewrs387906244
scholarrs387906244
googlers387906244
pharmgkbrs387906244
gwascentralrs387906244
openSNPrs387906244
23andMers387906244
23andMe allrs387906244
SNP Nexus

SNPshotrs387906244
SNPdbers387906244
MSV3drs387906244
GWAS Ctlgrs387906244
Max Magnitude0
ClinVar
Risk rs387906244(A;A)
Alt rs387906244(A;A)
Reference rs387906244(;)
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.100387137dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000001152.3, RCV000169573.1,