Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852477

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852477(G;G)
Make rs137852477(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134490199
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852477
ebirs137852477
HLIrs137852477
Exacrs137852477
Varsomers137852477
Maprs137852477
PheGenIrs137852477
hapmaprs137852477
1000 genomesrs137852477
hgdprs137852477
ensemblrs137852477
gopubmedrs137852477
geneviewrs137852477
scholarrs137852477
googlers137852477
pharmgkbrs137852477
gwascentralrs137852477
openSNPrs137852477
23andMers137852477
23andMe allrs137852477
SNP Nexus

SNPshotrs137852477
SNPdbers137852477
MSV3drs137852477
GWAS Ctlgrs137852477
Max Magnitude0
OMIM308000
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852477(G;G)
Alt rs137852477(G;G)
Reference rs137852477(T;T)
Significance Other
Disease Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT ANN ARBOR
Variation info
Gene HPRT1
CLNDBN Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT ANN ARBOR
Reversed 0
HGVS NC_000023.10:g.133624229T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010712.2, RCV000010713.1,