Rs104894453

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894453(A;A)
Make rs104894453(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position20474555
GenePNP
is asnp
is mentioned by
dbSNPrs104894453
Exacrs104894453
PheGenIrs104894453
nextbiors104894453
hapmaprs104894453
1000 genomesrs104894453
hgdprs104894453
ensemblrs104894453
gopubmedrs104894453
geneviewrs104894453
scholarrs104894453
googlers104894453
pharmgkbrs104894453
gwascentralrs104894453
openSNPrs104894453
23andMers104894453
23andMe allrs104894453
SNP Nexus

SNPshotrs104894453
SNPdbers104894453
MSV3drs104894453
Max Magnitude0
OMIM164050
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894453(A;A)
Alt rs104894453(A;A)
Reference rs104894453(G;G)
Significance Pathogenic
Disease Purine-nucleoside phosphorylase deficiency
Variation info
Gene PNP
CLNDBN Purine-nucleoside phosphorylase deficiency
Reversed 0
HGVS NC_000014.8:g.20942714G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015025.24,