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rs137852542

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852542(C;C)
Make rs137852542(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position107639326
GenePRPS1
is asnp
is mentioned by
dbSNPrs137852542
ebirs137852542
HLIrs137852542
Exacrs137852542
Varsomers137852542
Maprs137852542
PheGenIrs137852542
hapmaprs137852542
1000 genomesrs137852542
hgdprs137852542
ensemblrs137852542
gopubmedrs137852542
geneviewrs137852542
scholarrs137852542
googlers137852542
pharmgkbrs137852542
gwascentralrs137852542
openSNPrs137852542
23andMers137852542
23andMe allrs137852542
SNP Nexus

SNPshotrs137852542
SNPdbers137852542
MSV3drs137852542
GWAS Ctlgrs137852542
Max Magnitude0
OMIM311850
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852542(C;C)
Alt rs137852542(C;C)
Reference rs137852542(G;G)
Significance Pathogenic
Disease Phosphoribosylpyrophosphate synthetase superactivity
Variation info
Gene PRPS1
CLNDBN Phosphoribosylpyrophosphate synthetase superactivity
Reversed 0
HGVS NC_000023.10:g.106882556G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010608.3,