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rs137852543

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852543(A;A)
Make rs137852543(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position107640980
GenePRPS1
is asnp
is mentioned by
dbSNPrs137852543
ebirs137852543
HLIrs137852543
Exacrs137852543
Varsomers137852543
Maprs137852543
PheGenIrs137852543
hapmaprs137852543
1000 genomesrs137852543
hgdprs137852543
ensemblrs137852543
gopubmedrs137852543
geneviewrs137852543
scholarrs137852543
googlers137852543
pharmgkbrs137852543
gwascentralrs137852543
openSNPrs137852543
23andMers137852543
23andMe allrs137852543
SNP Nexus

SNPshotrs137852543
SNPdbers137852543
MSV3drs137852543
GWAS Ctlgrs137852543
Max Magnitude0
OMIM311850
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852543(A;A)
Alt rs137852543(A;A)
Reference rs137852543(C;C)
Significance Pathogenic
Disease Phosphoribosylpyrophosphate synthetase superactivity
Variation info
Gene PRPS1
CLNDBN Phosphoribosylpyrophosphate synthetase superactivity
Reversed 0
HGVS NC_000023.10:g.106884210C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010609.3,