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rs137852528

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852528(A;A)
Make rs137852528(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position78123240
GenePGK1
is asnp
is mentioned by
dbSNPrs137852528
ebirs137852528
HLIrs137852528
Exacrs137852528
Varsomers137852528
Maprs137852528
PheGenIrs137852528
hapmaprs137852528
1000 genomesrs137852528
hgdprs137852528
ensemblrs137852528
gopubmedrs137852528
geneviewrs137852528
scholarrs137852528
googlers137852528
pharmgkbrs137852528
gwascentralrs137852528
openSNPrs137852528
23andMers137852528
23andMe allrs137852528
SNP Nexus

SNPshotrs137852528
SNPdbers137852528
MSV3drs137852528
GWAS Ctlgrs137852528
Max Magnitude0
OMIM311800
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852528(A;A)
Alt rs137852528(A;A)
Reference rs137852528(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.77378737G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010620.3,