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rs137852540

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852540(A;G)
Make rs137852540(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position107640936
GenePRPS1
is asnp
is mentioned by
dbSNPrs137852540
ebirs137852540
HLIrs137852540
Exacrs137852540
Varsomers137852540
Maprs137852540
PheGenIrs137852540
hapmaprs137852540
1000 genomesrs137852540
hgdprs137852540
ensemblrs137852540
gopubmedrs137852540
geneviewrs137852540
scholarrs137852540
googlers137852540
pharmgkbrs137852540
gwascentralrs137852540
openSNPrs137852540
23andMers137852540
23andMe allrs137852540
SNP Nexus

SNPshotrs137852540
SNPdbers137852540
MSV3drs137852540
GWAS Ctlgrs137852540
Max Magnitude0
OMIM311850
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852540(G;G)
Alt rs137852540(G;G)
Reference rs137852540(A;A)
Significance Pathogenic
Disease Phosphoribosylpyrophosphate synthetase superactivity
Variation info
Gene PRPS1
CLNDBN Phosphoribosylpyrophosphate synthetase superactivity
Reversed 0
HGVS NC_000023.10:g.106884166A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010606.4,