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rs137852495

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852495(C;C)
Make rs137852495(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134475216
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852495
ebirs137852495
HLIrs137852495
Exacrs137852495
Varsomers137852495
Maprs137852495
PheGenIrs137852495
hapmaprs137852495
1000 genomesrs137852495
hgdprs137852495
ensemblrs137852495
gopubmedrs137852495
geneviewrs137852495
scholarrs137852495
googlers137852495
pharmgkbrs137852495
gwascentralrs137852495
openSNPrs137852495
23andMers137852495
23andMe allrs137852495
SNP Nexus

SNPshotrs137852495
SNPdbers137852495
MSV3drs137852495
GWAS Ctlgrs137852495
Max Magnitude0
OMIM308000
Desc
Variant0036
Relatedalso
ClinVar
Risk rs137852495(C;C)
Alt rs137852495(C;C)
Reference rs137852495(T;T)
Significance Other
Disease Lesch-nyhan syndrome HPRT MONTREAL
Variation info
Gene HPRT1
CLNDBN Lesch-nyhan syndrome, neurologic variant HPRT MONTREAL
Reversed 0
HGVS NC_000023.10:g.133609246T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010763.2, RCV000010764.1,