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rs137852500

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852500(A;A)
Make rs137852500(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134475218
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852500
ebirs137852500
HLIrs137852500
Exacrs137852500
Varsomers137852500
Maprs137852500
PheGenIrs137852500
hapmaprs137852500
1000 genomesrs137852500
hgdprs137852500
ensemblrs137852500
gopubmedrs137852500
geneviewrs137852500
scholarrs137852500
googlers137852500
pharmgkbrs137852500
gwascentralrs137852500
openSNPrs137852500
23andMers137852500
23andMe allrs137852500
SNP Nexus

SNPshotrs137852500
SNPdbers137852500
MSV3drs137852500
GWAS Ctlgrs137852500
Max Magnitude0
OMIM308000
Desc
Variant0050
Relatedalso
ClinVar
Risk rs137852500(A;A)
Alt rs137852500(A;A)
Reference rs137852500(G;G)
Significance Other
Disease Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT TOOWONG
Variation info
Gene HPRT1
CLNDBN Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT TOOWONG
Reversed 0
HGVS NC_000023.10:g.133609248G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010779.4, RCV000010780.1,