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rs137852484

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852484(G;T)
Make rs137852484(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134493586
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852484
ebirs137852484
HLIrs137852484
Exacrs137852484
Varsomers137852484
Maprs137852484
PheGenIrs137852484
hapmaprs137852484
1000 genomesrs137852484
hgdprs137852484
ensemblrs137852484
gopubmedrs137852484
geneviewrs137852484
scholarrs137852484
googlers137852484
pharmgkbrs137852484
gwascentralrs137852484
openSNPrs137852484
23andMers137852484
23andMe allrs137852484
SNP Nexus

SNPshotrs137852484
SNPdbers137852484
MSV3drs137852484
GWAS Ctlgrs137852484
Max Magnitude0
OMIM308000
Desc
Variant0013
Relatedalso
ClinVar
Risk rs137852484(T;T)
Alt rs137852484(T;T)
Reference rs137852484(G;G)
Significance Other
Disease Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT MILWAUKEE
Variation info
Gene HPRT1
CLNDBN Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT MILWAUKEE
Reversed 0
HGVS NC_000023.10:g.133627616G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010736.5, RCV000010737.1,