Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852533

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852533(C;C)
Make rs137852533(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position78124883
GenePGK1
is asnp
is mentioned by
dbSNPrs137852533
ebirs137852533
HLIrs137852533
Exacrs137852533
Varsomers137852533
Maprs137852533
PheGenIrs137852533
hapmaprs137852533
1000 genomesrs137852533
hgdprs137852533
ensemblrs137852533
gopubmedrs137852533
geneviewrs137852533
scholarrs137852533
googlers137852533
pharmgkbrs137852533
gwascentralrs137852533
openSNPrs137852533
23andMers137852533
23andMe allrs137852533
SNP Nexus

SNPshotrs137852533
SNPdbers137852533
MSV3drs137852533
GWAS Ctlgrs137852533
Max Magnitude0
OMIM311800
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852533(C;C)
Alt rs137852533(C;C)
Reference rs137852533(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.77380380T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010626.2,