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rs137852531

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852531(C;C)
Make rs137852531(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position78113890
GenePGK1
is asnp
is mentioned by
dbSNPrs137852531
ebirs137852531
HLIrs137852531
Exacrs137852531
Varsomers137852531
Maprs137852531
PheGenIrs137852531
hapmaprs137852531
1000 genomesrs137852531
hgdprs137852531
ensemblrs137852531
gopubmedrs137852531
geneviewrs137852531
scholarrs137852531
googlers137852531
pharmgkbrs137852531
gwascentralrs137852531
openSNPrs137852531
23andMers137852531
23andMe allrs137852531
SNP Nexus

SNPshotrs137852531
SNPdbers137852531
MSV3drs137852531
GWAS Ctlgrs137852531
Max Magnitude0
OMIM311800
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852531(C;C)
Alt rs137852531(C;C)
Reference rs137852531(T;T)
Significance Pathogenic
Disease Phosphoglycerate kinase 1 deficiency
Variation info
Gene PGK1
CLNDBN Phosphoglycerate kinase 1 deficiency
Reversed 0
HGVS NC_000023.10:g.77369387T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010624.4,