Rs104894452

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Orientationplus
is asnp
is mentioned by
dbSNPrs104894452
PheGenIrs104894452
nextbiors104894452
hapmaprs104894452
1000 genomesrs104894452
hgdprs104894452
ensemblrs104894452
gopubmedrs104894452
geneviewrs104894452
scholarrs104894452
googlers104894452
pharmgkbrs104894452
gwascentralrs104894452
openSNPrs104894452
23andMers104894452
23andMe allrs104894452
SNP Nexus

SNPshotrs104894452
SNPdbers104894452
MSV3drs104894452
GenePNP
Chromosome14
Orientationplus
Position20475175
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894452(A;G)
Make rs104894452(G;G)
OMIM164050
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894452(G;G)
Alt rs104894452(G;G)
Reference rs104894452(A;A)
Significance 5
Disease Purine-nucleoside phosphorylase deficiency
ClinVar info
Gene PNP
CLNDBN Purine-nucleoside phosphorylase deficiency
Reversed 0
CLNHGVS NC_000014.8:g.20943334A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015030.24