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rs137852480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852480(C;C)
Make rs137852480(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134473453
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852480
dbSNP (old)rs137852480
ClinGenrs137852480
ebirs137852480
HLIrs137852480
Exacrs137852480
Gnomadrs137852480
Varsomers137852480
Maprs137852480
PheGenIrs137852480
Biobankrs137852480
1000 genomesrs137852480
hgdprs137852480
ensemblrs137852480
gopubmedrs137852480
geneviewrs137852480
scholarrs137852480
googlers137852480
pharmgkbrs137852480
gwascentralrs137852480
openSNPrs137852480
23andMers137852480
23andMe allrs137852480
SNP Nexus

SNPshotrs137852480
SNPdbers137852480
MSV3drs137852480
GWAS Ctlgrs137852480
Max Magnitude0
OMIM308000
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852480(C;C)
Alt rs137852480(C;C)
Reference Rs137852480(T;T)
Significance Other
Disease Lesch-Nyhan syndrome HPRT DETROIT
Variation info
Gene HPRT1
CLNDBN Lesch-Nyhan syndrome HPRT DETROIT
Reversed 0
HGVS NC_000023.10:g.133607483T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010722.2, RCV000010723.1,