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rs786204489

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204489(C;T)
Make rs786204489(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position99861514
GeneAGL
is asnp
is mentioned by
dbSNPrs786204489
ClinGenrs786204489
ebirs786204489
HLIrs786204489
Exacrs786204489
Varsomers786204489
Maprs786204489
PheGenIrs786204489
hapmaprs786204489
1000 genomesrs786204489
hgdprs786204489
ensemblrs786204489
gopubmedrs786204489
geneviewrs786204489
scholarrs786204489
googlers786204489
pharmgkbrs786204489
gwascentralrs786204489
openSNPrs786204489
23andMers786204489
23andMe allrs786204489
SNP Nexus

SNPshotrs786204489
SNPdbers786204489
MSV3drs786204489
GWAS Ctlgrs786204489
Max Magnitude0
ClinVar
Risk rs786204489(T;T)
Alt rs786204489(T;T)
Reference Rs786204489(C;C)
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.100327070C>T
CLNSRC
CLNACC RCV000169156.1,