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rs137852497

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852497(C;T)
Make rs137852497(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134498412
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852497
ebirs137852497
HLIrs137852497
Exacrs137852497
Varsomers137852497
Maprs137852497
PheGenIrs137852497
hapmaprs137852497
1000 genomesrs137852497
hgdprs137852497
ensemblrs137852497
gopubmedrs137852497
geneviewrs137852497
scholarrs137852497
googlers137852497
pharmgkbrs137852497
gwascentralrs137852497
openSNPrs137852497
23andMers137852497
23andMe allrs137852497
SNP Nexus

SNPshotrs137852497
SNPdbers137852497
MSV3drs137852497
GWAS Ctlgrs137852497
Max Magnitude0
OMIM308000
Desc
Variant0038
Relatedalso
ClinVar
Risk rs137852497(A,T;A,T)
Alt rs137852497(A,T;A,T)
Reference rs137852497(C;C)
Significance Pathogenic
Disease Lesch-Nyhan syndrome
Variation info
Gene HPRT1
CLNDBN Lesch-Nyhan syndrome
Reversed 0
HGVS NC_000023.10:g.133632442C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010766.4,