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rs137852545

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852545(C;G)
Make rs137852545(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position107645225
GenePRPS1
is asnp
is mentioned by
dbSNPrs137852545
ebirs137852545
HLIrs137852545
Exacrs137852545
Varsomers137852545
Maprs137852545
PheGenIrs137852545
hapmaprs137852545
1000 genomesrs137852545
hgdprs137852545
ensemblrs137852545
gopubmedrs137852545
geneviewrs137852545
scholarrs137852545
googlers137852545
pharmgkbrs137852545
gwascentralrs137852545
openSNPrs137852545
23andMers137852545
23andMe allrs137852545
SNP Nexus

SNPshotrs137852545
SNPdbers137852545
MSV3drs137852545
GWAS Ctlgrs137852545
Max Magnitude0
OMIM311850
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852545(G;G)
Alt rs137852545(G;G)
Reference rs137852545(C;C)
Significance Pathogenic
Disease Phosphoribosylpyrophosphate synthetase superactivity
Variation info
Gene PRPS1
CLNDBN Phosphoribosylpyrophosphate synthetase superactivity
Reversed 0
HGVS NC_000023.10:g.106888455C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010611.3,