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rs672601245

From SNPedia

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Geno Mag Summary
(ATA;ATA) 0 common in clinvar
Make rs672601245(ATA;TTT)
Make rs672601245(TTT;TTT)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position134500026
GeneHPRT1
is asnp
is mentioned by
dbSNPrs672601245
ebirs672601245
HLIrs672601245
Exacrs672601245
Varsomers672601245
Maprs672601245
PheGenIrs672601245
hapmaprs672601245
1000 genomesrs672601245
hgdprs672601245
ensemblrs672601245
gopubmedrs672601245
geneviewrs672601245
scholarrs672601245
googlers672601245
pharmgkbrs672601245
gwascentralrs672601245
openSNPrs672601245
23andMers672601245
23andMe allrs672601245
SNP Nexus

SNPshotrs672601245
SNPdbers672601245
MSV3drs672601245
GWAS Ctlgrs672601245
Max Magnitude0
ClinVar
Risk rs672601245(TTT;TTT)
Alt rs672601245(TTT;TTT)
Reference rs672601245(ATA;ATA)
Significance Pathogenic
Disease Lesch-Nyhan syndrome
Variation info
Gene HPRT1
CLNDBN Lesch-Nyhan syndrome
Reversed 0
HGVS NC_000023.10:g.133634056_133634058delATAinsTTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000010755.4,