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rs387906725

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906725(A;A)
Make rs387906725(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134475189
GeneHPRT1
is asnp
is mentioned by
dbSNPrs387906725
ebirs387906725
HLIrs387906725
Exacrs387906725
Varsomers387906725
Maprs387906725
PheGenIrs387906725
hapmaprs387906725
1000 genomesrs387906725
hgdprs387906725
ensemblrs387906725
gopubmedrs387906725
geneviewrs387906725
scholarrs387906725
googlers387906725
pharmgkbrs387906725
gwascentralrs387906725
openSNPrs387906725
23andMers387906725
23andMe allrs387906725
SNP Nexus

SNPshotrs387906725
SNPdbers387906725
MSV3drs387906725
GWAS Ctlgrs387906725
Max Magnitude0
ClinVar
Risk rs387906725(A;A)
Alt rs387906725(A;A)
Reference rs387906725(G;G)
Significance Pathogenic
Disease Lesch-nyhan syndrome Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Variation info
Gene HPRT1
CLNDBN Lesch-nyhan syndrome, neurologic variant Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Reversed 0
HGVS NC_000023.10:g.133609219G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022877.3, RCV000022878.3,