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rs121918403

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918403(A;A)
Make rs121918403(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position4955097
GeneENO3
is asnp
is mentioned by
dbSNPrs121918403
ebirs121918403
HLIrs121918403
Exacrs121918403
Varsomers121918403
Maprs121918403
PheGenIrs121918403
hapmaprs121918403
1000 genomesrs121918403
hgdprs121918403
ensemblrs121918403
gopubmedrs121918403
geneviewrs121918403
scholarrs121918403
googlers121918403
pharmgkbrs121918403
gwascentralrs121918403
openSNPrs121918403
23andMers121918403
23andMe allrs121918403
SNP Nexus

SNPshotrs121918403
SNPdbers121918403
MSV3drs121918403
GWAS Ctlgrs121918403
GMAF0.0004591
Max Magnitude0
OMIM131370
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918403(A,C;A,C)
Alt rs121918403(A,C;A,C)
Reference rs121918403(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.4858392G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018092.29,