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rs104894455

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894455(C;T)
Make rs104894455(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position20472366
GenePNP
is asnp
is mentioned by
dbSNPrs104894455
ebirs104894455
HLIrs104894455
Exacrs104894455
Varsomers104894455
Maprs104894455
PheGenIrs104894455
hapmaprs104894455
1000 genomesrs104894455
hgdprs104894455
ensemblrs104894455
gopubmedrs104894455
geneviewrs104894455
scholarrs104894455
googlers104894455
pharmgkbrs104894455
gwascentralrs104894455
openSNPrs104894455
23andMers104894455
23andMe allrs104894455
SNP Nexus

SNPshotrs104894455
SNPdbers104894455
MSV3drs104894455
GWAS Ctlgrs104894455
Max Magnitude0
OMIM164050
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894455(T;T)
Alt rs104894455(T;T)
Reference rs104894455(C;C)
Significance Pathogenic
Disease Purine-nucleoside phosphorylase deficiency
Variation info
Gene PNP
CLNDBN Purine-nucleoside phosphorylase deficiency
Reversed 0
HGVS NC_000014.8:g.20940525C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015032.21,