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rs137852499

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852499(A;A)
Make rs137852499(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134473377
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852499
ebirs137852499
HLIrs137852499
Exacrs137852499
Varsomers137852499
Maprs137852499
PheGenIrs137852499
hapmaprs137852499
1000 genomesrs137852499
hgdprs137852499
ensemblrs137852499
gopubmedrs137852499
geneviewrs137852499
scholarrs137852499
googlers137852499
pharmgkbrs137852499
gwascentralrs137852499
openSNPrs137852499
23andMers137852499
23andMe allrs137852499
SNP Nexus

SNPshotrs137852499
SNPdbers137852499
MSV3drs137852499
GWAS Ctlgrs137852499
Max Magnitude0
OMIM308000
Desc
Variant0049
Relatedalso
ClinVar
Risk rs137852499(A;A)
Alt rs137852499(A;A)
Reference rs137852499(G;G)
Significance Other
Disease Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT URANGAN
Variation info
Gene HPRT1
CLNDBN Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT URANGAN
Reversed 0
HGVS NC_000023.10:g.133607407G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010777.4, RCV000010778.1,