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rs121909448

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909448(G;G)
Make rs121909448(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position52293032
GeneGLYCTK
is asnp
is mentioned by
dbSNPrs121909448
ebirs121909448
HLIrs121909448
Exacrs121909448
Varsomers121909448
Maprs121909448
PheGenIrs121909448
hapmaprs121909448
1000 genomesrs121909448
hgdprs121909448
ensemblrs121909448
gopubmedrs121909448
geneviewrs121909448
scholarrs121909448
googlers121909448
pharmgkbrs121909448
gwascentralrs121909448
openSNPrs121909448
23andMers121909448
23andMe allrs121909448
SNP Nexus

SNPshotrs121909448
SNPdbers121909448
MSV3drs121909448
GWAS Ctlgrs121909448
Max Magnitude0
ClinVar
Risk rs121909448(G;G)
Alt rs121909448(G;G)
Reference rs121909448(T;T)
Significance Pathogenic
Disease Deficiency of glycerate kinase
Variation info
Gene GLYCTK
CLNDBN Deficiency of glycerate kinase
Reversed 0
HGVS NC_000003.11:g.52327048T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023821.3,