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rs137852536

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852536(A;A)
Make rs137852536(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position78113767
GenePGK1
is asnp
is mentioned by
dbSNPrs137852536
ebirs137852536
HLIrs137852536
Exacrs137852536
Varsomers137852536
Maprs137852536
PheGenIrs137852536
hapmaprs137852536
1000 genomesrs137852536
hgdprs137852536
ensemblrs137852536
gopubmedrs137852536
geneviewrs137852536
scholarrs137852536
googlers137852536
pharmgkbrs137852536
gwascentralrs137852536
openSNPrs137852536
23andMers137852536
23andMe allrs137852536
SNP Nexus

SNPshotrs137852536
SNPdbers137852536
MSV3drs137852536
GWAS Ctlgrs137852536
Max Magnitude0
OMIM311800
Desc
Variant0011
Relatedalso
ClinVar
Risk rs137852536(A;A)
Alt rs137852536(A;A)
Reference rs137852536(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.77369264T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010630.3,