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rs137852478

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852478(A;T)
Make rs137852478(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134475285
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852478
ebirs137852478
HLIrs137852478
Exacrs137852478
Varsomers137852478
Maprs137852478
PheGenIrs137852478
hapmaprs137852478
1000 genomesrs137852478
hgdprs137852478
ensemblrs137852478
gopubmedrs137852478
geneviewrs137852478
scholarrs137852478
googlers137852478
pharmgkbrs137852478
gwascentralrs137852478
openSNPrs137852478
23andMers137852478
23andMe allrs137852478
SNP Nexus

SNPshotrs137852478
SNPdbers137852478
MSV3drs137852478
GWAS Ctlgrs137852478
Max Magnitude0
OMIM308000
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852478(T;T)
Alt rs137852478(T;T)
Reference rs137852478(A;A)
Significance Other
Disease Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT ARLINGTON
Variation info
Gene HPRT1
CLNDBN Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT ARLINGTON
Reversed 0
HGVS NC_000023.10:g.133609315A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010714.2, RCV000010715.1,