Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852541

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852541(C;C)
Make rs137852541(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position107645193
GenePRPS1
is asnp
is mentioned by
dbSNPrs137852541
ebirs137852541
HLIrs137852541
Exacrs137852541
Varsomers137852541
Maprs137852541
PheGenIrs137852541
hapmaprs137852541
1000 genomesrs137852541
hgdprs137852541
ensemblrs137852541
gopubmedrs137852541
geneviewrs137852541
scholarrs137852541
googlers137852541
pharmgkbrs137852541
gwascentralrs137852541
openSNPrs137852541
23andMers137852541
23andMe allrs137852541
SNP Nexus

SNPshotrs137852541
SNPdbers137852541
MSV3drs137852541
GWAS Ctlgrs137852541
Max Magnitude0
OMIM311850
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852541(C;C)
Alt rs137852541(C;C)
Reference rs137852541(G;G)
Significance Pathogenic
Disease Phosphoribosylpyrophosphate synthetase superactivity
Variation info
Gene PRPS1
CLNDBN Phosphoribosylpyrophosphate synthetase superactivity
Reversed 0
HGVS NC_000023.10:g.106888423G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010607.4,