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rs137852501

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852501(C;G)
Make rs137852501(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134475278
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852501
ebirs137852501
HLIrs137852501
Exacrs137852501
Varsomers137852501
Maprs137852501
PheGenIrs137852501
hapmaprs137852501
1000 genomesrs137852501
hgdprs137852501
ensemblrs137852501
gopubmedrs137852501
geneviewrs137852501
scholarrs137852501
googlers137852501
pharmgkbrs137852501
gwascentralrs137852501
openSNPrs137852501
23andMers137852501
23andMe allrs137852501
SNP Nexus

SNPshotrs137852501
SNPdbers137852501
MSV3drs137852501
GWAS Ctlgrs137852501
Max Magnitude0
OMIM308000
Desc
Variant0051
Relatedalso
ClinVar
Risk rs137852501(G;G)
Alt rs137852501(G;G)
Reference rs137852501(C;C)
Significance Other
Disease Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT SWAN
Variation info
Gene HPRT1
CLNDBN Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT SWAN
Reversed 0
HGVS NC_000023.10:g.133609308C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010781.4, RCV000010782.1,