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rs121918404

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918404(A;A)
Make rs121918404(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position4956626
GeneENO3
is asnp
is mentioned by
dbSNPrs121918404
ebirs121918404
HLIrs121918404
Exacrs121918404
Varsomers121918404
Maprs121918404
PheGenIrs121918404
hapmaprs121918404
1000 genomesrs121918404
hgdprs121918404
ensemblrs121918404
gopubmedrs121918404
geneviewrs121918404
scholarrs121918404
googlers121918404
pharmgkbrs121918404
gwascentralrs121918404
openSNPrs121918404
23andMers121918404
23andMe allrs121918404
SNP Nexus

SNPshotrs121918404
SNPdbers121918404
MSV3drs121918404
GWAS Ctlgrs121918404
Max Magnitude0
OMIM131370
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918404(A;A)
Alt rs121918404(A;A)
Reference rs121918404(G;G)
Significance Pathogenic
Disease Glycogen storage disease type 13
Variation info
Gene ENO3
CLNDBN Glycogen storage disease type 13
Reversed 0
HGVS NC_000017.10:g.4859921G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018093.25,