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rs137852544

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852544(C;T)
Make rs137852544(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position107645215
GenePRPS1
is asnp
is mentioned by
dbSNPrs137852544
ebirs137852544
HLIrs137852544
Exacrs137852544
Varsomers137852544
Maprs137852544
PheGenIrs137852544
hapmaprs137852544
1000 genomesrs137852544
hgdprs137852544
ensemblrs137852544
gopubmedrs137852544
geneviewrs137852544
scholarrs137852544
googlers137852544
pharmgkbrs137852544
gwascentralrs137852544
openSNPrs137852544
23andMers137852544
23andMe allrs137852544
SNP Nexus

SNPshotrs137852544
SNPdbers137852544
MSV3drs137852544
GWAS Ctlgrs137852544
Max Magnitude0
OMIM311850
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852544(T;T)
Alt rs137852544(T;T)
Reference rs137852544(C;C)
Significance Pathogenic
Disease Phosphoribosylpyrophosphate synthetase superactivity
Variation info
Gene PRPS1
CLNDBN Phosphoribosylpyrophosphate synthetase superactivity
Reversed 0
HGVS NC_000023.10:g.106888445C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010610.4,