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rs137852534

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852534(C;C)
Make rs137852534(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position78123196
GenePGK1
is asnp
is mentioned by
dbSNPrs137852534
ebirs137852534
HLIrs137852534
Exacrs137852534
Varsomers137852534
Maprs137852534
PheGenIrs137852534
hapmaprs137852534
1000 genomesrs137852534
hgdprs137852534
ensemblrs137852534
gopubmedrs137852534
geneviewrs137852534
scholarrs137852534
googlers137852534
pharmgkbrs137852534
gwascentralrs137852534
openSNPrs137852534
23andMers137852534
23andMe allrs137852534
SNP Nexus

SNPshotrs137852534
SNPdbers137852534
MSV3drs137852534
GWAS Ctlgrs137852534
Max Magnitude0
OMIM311800
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137852534(C;C)
Alt rs137852534(C;C)
Reference rs137852534(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.77378693T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010628.3,