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rs137852482

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852482(C;T)
Make rs137852482(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134486475
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852482
ebirs137852482
HLIrs137852482
Exacrs137852482
Varsomers137852482
Maprs137852482
PheGenIrs137852482
hapmaprs137852482
1000 genomesrs137852482
hgdprs137852482
ensemblrs137852482
gopubmedrs137852482
geneviewrs137852482
scholarrs137852482
googlers137852482
pharmgkbrs137852482
gwascentralrs137852482
openSNPrs137852482
23andMers137852482
23andMe allrs137852482
SNP Nexus

SNPshotrs137852482
SNPdbers137852482
MSV3drs137852482
GWAS Ctlgrs137852482
Max Magnitude0
OMIM308000
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137852482(T;T)
Alt rs137852482(T;T)
Reference rs137852482(C;C)
Significance Other
Disease Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT LONDON
Variation info
Gene HPRT1
CLNDBN Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT LONDON
Reversed 0
HGVS NC_000023.10:g.133620505C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010730.4, RCV000010731.1,