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rs137852485

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852485(A;A)
Make rs137852485(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134475358
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852485
ebirs137852485
HLIrs137852485
Exacrs137852485
Varsomers137852485
Maprs137852485
PheGenIrs137852485
hapmaprs137852485
1000 genomesrs137852485
hgdprs137852485
ensemblrs137852485
gopubmedrs137852485
geneviewrs137852485
scholarrs137852485
googlers137852485
pharmgkbrs137852485
gwascentralrs137852485
openSNPrs137852485
23andMers137852485
23andMe allrs137852485
SNP Nexus

SNPshotrs137852485
SNPdbers137852485
MSV3drs137852485
GWAS Ctlgrs137852485
Max Magnitude0
OMIM308000
Desc
Variant0014
Relatedalso
ClinVar
Risk rs137852485(A;A)
Alt rs137852485(A;A)
Reference rs137852485(C;C)
Significance Other
Disease Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT MUNICH
Variation info
Gene HPRT1
CLNDBN Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT MUNICH
Reversed 0
HGVS NC_000023.10:g.133609388C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010738.2, RCV000010739.1,