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rs199922945

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199922945(G;T)
Make rs199922945(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position99880047
GeneAGL
is asnp
is mentioned by
dbSNPrs199922945
ebirs199922945
HLIrs199922945
Exacrs199922945
Varsomers199922945
Maprs199922945
PheGenIrs199922945
hapmaprs199922945
1000 genomesrs199922945
hgdprs199922945
ensemblrs199922945
gopubmedrs199922945
geneviewrs199922945
scholarrs199922945
googlers199922945
pharmgkbrs199922945
gwascentralrs199922945
openSNPrs199922945
23andMers199922945
23andMe allrs199922945
SNP Nexus

SNPshotrs199922945
SNPdbers199922945
MSV3drs199922945
GWAS Ctlgrs199922945
Max Magnitude0
ClinVar
Risk rs199922945(T;T)
Alt rs199922945(T;T)
Reference rs199922945(G;G)
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.100345603G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001159.3, RCV000169137.1,