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rs137852529

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852529(C;C)
Make rs137852529(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position78118146
GenePGK1
is asnp
is mentioned by
dbSNPrs137852529
ebirs137852529
HLIrs137852529
Exacrs137852529
Varsomers137852529
Maprs137852529
PheGenIrs137852529
hapmaprs137852529
1000 genomesrs137852529
hgdprs137852529
ensemblrs137852529
gopubmedrs137852529
geneviewrs137852529
scholarrs137852529
googlers137852529
pharmgkbrs137852529
gwascentralrs137852529
openSNPrs137852529
23andMers137852529
23andMe allrs137852529
SNP Nexus

SNPshotrs137852529
SNPdbers137852529
MSV3drs137852529
GWAS Ctlgrs137852529
Max Magnitude0
OMIM311800
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852529(C;C)
Alt rs137852529(C;C)
Reference rs137852529(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.77373643G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010621.2,