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rs137852539

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852539(A;C)
Make rs137852539(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position78125344
GenePGK1
is asnp
is mentioned by
dbSNPrs137852539
ebirs137852539
HLIrs137852539
Exacrs137852539
Varsomers137852539
Maprs137852539
PheGenIrs137852539
hapmaprs137852539
1000 genomesrs137852539
hgdprs137852539
ensemblrs137852539
gopubmedrs137852539
geneviewrs137852539
scholarrs137852539
googlers137852539
pharmgkbrs137852539
gwascentralrs137852539
openSNPrs137852539
23andMers137852539
23andMe allrs137852539
SNP Nexus

SNPshotrs137852539
SNPdbers137852539
MSV3drs137852539
GWAS Ctlgrs137852539
Max Magnitude0
OMIM311800
Desc
Variant0015
Relatedalso
ClinVar
Risk rs137852539(C;C)
Alt rs137852539(C;C)
Reference rs137852539(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.77380841A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010634.4,