Rs104894451

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894451(C;C)
Make rs104894451(C;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position20476432
GenePNP
is asnp
is mentioned by
dbSNPrs104894451
Exacrs104894451
PheGenIrs104894451
nextbiors104894451
hapmaprs104894451
1000 genomesrs104894451
hgdprs104894451
ensemblrs104894451
gopubmedrs104894451
geneviewrs104894451
scholarrs104894451
googlers104894451
pharmgkbrs104894451
gwascentralrs104894451
openSNPrs104894451
23andMers104894451
23andMe allrs104894451
SNP Nexus

SNPshotrs104894451
SNPdbers104894451
MSV3drs104894451
OMIM164050
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894451(C;C)
Alt rs104894451(C;C)
Reference rs104894451(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.20944591G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015028.20,