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rs1049564

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1049564(C;T)
Make rs1049564(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position20472447
GenePNP
is asnp
is mentioned by
dbSNPrs1049564
ebirs1049564
HLIrs1049564
Exacrs1049564
Varsomers1049564
Maprs1049564
PheGenIrs1049564
hapmaprs1049564
1000 genomesrs1049564
hgdprs1049564
ensemblrs1049564
gopubmedrs1049564
geneviewrs1049564
scholarrs1049564
googlers1049564
pharmgkbrs1049564
gwascentralrs1049564
openSNPrs1049564
23andMers1049564
23andMe allrs1049564
SNP Nexus

SNPshotrs1049564
SNPdbers1049564
MSV3drs1049564
GWAS Ctlgrs1049564
GMAF0.2218
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM164050
DescNUCLEOSIDE PHOSPHORYLASE POLYMORPHISM
Variant0005
Relatedalso


ClinVar
Risk rs1049564(T;T)
Alt rs1049564(T;T)
Reference rs1049564(C;C)
Significance Non-pathogenic
Disease NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM not specified
Variation info
Gene PNP
CLNDBN NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM not specified
Reversed 1
HGVS NC_000014.8:g.20940606G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015029.2, RCV000127500.1,



GET Evidence
PNP-G51S
aa_change Gly51Ser
aa_change_short G51S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.200595
summary



[PMID 24107682] Functional analysis of purine nucleoside phosphorylase as a key enzyme in ribavirin metabolism