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rs137852538

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852538(A;T)
Make rs137852538(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position78117385
GenePGK1
is asnp
is mentioned by
dbSNPrs137852538
ebirs137852538
HLIrs137852538
Exacrs137852538
Varsomers137852538
Maprs137852538
PheGenIrs137852538
hapmaprs137852538
1000 genomesrs137852538
hgdprs137852538
ensemblrs137852538
gopubmedrs137852538
geneviewrs137852538
scholarrs137852538
googlers137852538
pharmgkbrs137852538
gwascentralrs137852538
openSNPrs137852538
23andMers137852538
23andMe allrs137852538
SNP Nexus

SNPshotrs137852538
SNPdbers137852538
MSV3drs137852538
GWAS Ctlgrs137852538
Max Magnitude0
OMIM311800
Desc
Variant0013
Relatedalso
ClinVar
Risk rs137852538(T;T)
Alt rs137852538(T;T)
Reference rs137852538(A;A)
Significance Pathogenic
Disease Phosphoglycerate kinase 1 deficiency
Variation info
Gene PGK1
CLNDBN Phosphoglycerate kinase 1 deficiency
Reversed 0
HGVS NC_000023.10:g.77372882A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010632.4,