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rs137852502

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852502(A;G)
Make rs137852502(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134475201
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852502
ebirs137852502
HLIrs137852502
Exacrs137852502
Varsomers137852502
Maprs137852502
PheGenIrs137852502
hapmaprs137852502
1000 genomesrs137852502
hgdprs137852502
ensemblrs137852502
gopubmedrs137852502
geneviewrs137852502
scholarrs137852502
googlers137852502
pharmgkbrs137852502
gwascentralrs137852502
openSNPrs137852502
23andMers137852502
23andMe allrs137852502
SNP Nexus

SNPshotrs137852502
SNPdbers137852502
MSV3drs137852502
GWAS Ctlgrs137852502
Max Magnitude0
OMIM308000
Desc
Variant0054
Relatedalso
ClinVar
Risk rs137852502(G;G)
Alt rs137852502(G;G)
Reference rs137852502(A;A)
Significance Other
Disease Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT EDINBURGH
Variation info
Gene HPRT1
CLNDBN Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT EDINBURGH
Reversed 0
HGVS NC_000023.10:g.133609231A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010787.4, RCV000010788.1,