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rs113994131

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994131(C;T)
Make rs113994131(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position99902776
GeneAGL
is asnp
is mentioned by
dbSNPrs113994131
dbSNP (classic)rs113994131
ClinGenrs113994131
ebirs113994131
HLIrs113994131
Exacrs113994131
Gnomadrs113994131
Varsomers113994131
LitVarrs113994131
Maprs113994131
PheGenIrs113994131
Biobankrs113994131
1000 genomesrs113994131
hgdprs113994131
ensemblrs113994131
geneviewrs113994131
scholarrs113994131
googlers113994131
pharmgkbrs113994131
gwascentralrs113994131
openSNPrs113994131
23andMers113994131
SNPshotrs113994131
SNPdbers113994131
MSV3drs113994131
GWAS Ctlgrs113994131
Max Magnitude0
ClinVar
Risk rs113994131(A;A) rs113994131(T;T)
Alt rs113994131(A;A) rs113994131(T;T)
Reference Rs113994131(C;C)
Significance Pathogenic
Disease Glycogen storage disease type III
Variation info
Gene AGL
CLNDBN Glycogen storage disease type III
Reversed 0
HGVS NC_000001.10:g.100368332C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020377.2,


OMIM232400
Desc
Variant
Relatedalso