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rs137852532

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852532(G;T)
Make rs137852532(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position78117367
GenePGK1
is asnp
is mentioned by
dbSNPrs137852532
ebirs137852532
HLIrs137852532
Exacrs137852532
Varsomers137852532
Maprs137852532
PheGenIrs137852532
hapmaprs137852532
1000 genomesrs137852532
hgdprs137852532
ensemblrs137852532
gopubmedrs137852532
geneviewrs137852532
scholarrs137852532
googlers137852532
pharmgkbrs137852532
gwascentralrs137852532
openSNPrs137852532
23andMers137852532
23andMe allrs137852532
SNP Nexus

SNPshotrs137852532
SNPdbers137852532
MSV3drs137852532
GWAS Ctlgrs137852532
Max Magnitude0
OMIM311800
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852532(T;T)
Alt rs137852532(T;T)
Reference rs137852532(G;G)
Significance Pathogenic
Disease Phosphoglycerate kinase 1 deficiency
Variation info
Gene PGK1
CLNDBN Phosphoglycerate kinase 1 deficiency
Reversed 0
HGVS NC_000023.10:g.77372864G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010625.3,