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rs137852535

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852535(A;T)
Make rs137852535(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position78123292
GenePGK1
is asnp
is mentioned by
dbSNPrs137852535
ebirs137852535
HLIrs137852535
Exacrs137852535
Varsomers137852535
Maprs137852535
PheGenIrs137852535
hapmaprs137852535
1000 genomesrs137852535
hgdprs137852535
ensemblrs137852535
gopubmedrs137852535
geneviewrs137852535
scholarrs137852535
googlers137852535
pharmgkbrs137852535
gwascentralrs137852535
openSNPrs137852535
23andMers137852535
23andMe allrs137852535
SNP Nexus

SNPshotrs137852535
SNPdbers137852535
MSV3drs137852535
GWAS Ctlgrs137852535
Max Magnitude0
OMIM311800
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137852535(T;T)
Alt rs137852535(T;T)
Reference rs137852535(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.77378789A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010629.3,