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rs137852537

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852537(A;A)
Make rs137852537(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position78124896
GenePGK1
is asnp
is mentioned by
dbSNPrs137852537
ebirs137852537
HLIrs137852537
Exacrs137852537
Varsomers137852537
Maprs137852537
PheGenIrs137852537
hapmaprs137852537
1000 genomesrs137852537
hgdprs137852537
ensemblrs137852537
gopubmedrs137852537
geneviewrs137852537
scholarrs137852537
googlers137852537
pharmgkbrs137852537
gwascentralrs137852537
openSNPrs137852537
23andMers137852537
23andMe allrs137852537
SNP Nexus

SNPshotrs137852537
SNPdbers137852537
MSV3drs137852537
GWAS Ctlgrs137852537
Max Magnitude0
OMIM311800
Desc
Variant0012
Relatedalso
ClinVar
Risk rs137852537(A;A)
Alt rs137852537(A;A)
Reference rs137852537(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.77380393G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010631.4,