Rs104894454

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Orientationplus
is asnp
is mentioned by
dbSNPrs104894454
PheGenIrs104894454
nextbiors104894454
hapmaprs104894454
1000 genomesrs104894454
hgdprs104894454
ensemblrs104894454
gopubmedrs104894454
geneviewrs104894454
scholarrs104894454
googlers104894454
pharmgkbrs104894454
gwascentralrs104894454
openSNPrs104894454
23andMers104894454
23andMe allrs104894454
SNP Nexus

SNPshotrs104894454
SNPdbers104894454
MSV3drs104894454
GenePNP
Chromosome14
Orientationplus
Position20943279
ReferenceGRCh37 37.1/132
Max Magnitude0
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894454(C;C)
Make rs104894454(C;G)
OMIM164050
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894454(C;C)
Alt rs104894454(C;C)
Reference rs104894454(G;G)
Significance 5
Disease Purine-nucleoside phosphorylase deficiency
ClinVar info
Gene PNP
CLNDBN Purine-nucleoside phosphorylase deficiency
Reversed 0
CLNHGVS NC_000014.8:g.20943279G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015026.24