rs1049564
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1049564(C;T) |
| Make rs1049564(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 20472447 |
| Gene | PNP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1049564 |
| dbSNP (classic) | rs1049564 |
| ClinGen | rs1049564 |
| ebi | rs1049564 |
| HLI | rs1049564 |
| Exac | rs1049564 |
| Gnomad | rs1049564 |
| Varsome | rs1049564 |
| LitVar | rs1049564 |
| Map | rs1049564 |
| PheGenI | rs1049564 |
| Biobank | rs1049564 |
| 1000 genomes | rs1049564 |
| hgdp | rs1049564 |
| ensembl | rs1049564 |
| geneview | rs1049564 |
| scholar | rs1049564 |
| rs1049564 | |
| pharmgkb | rs1049564 |
| gwascentral | rs1049564 |
| openSNP | rs1049564 |
| 23andMe | rs1049564 |
| SNPshot | rs1049564 |
| SNPdbe | rs1049564 |
| MSV3d | rs1049564 |
| GWAS Ctlg | rs1049564 |
| GMAF | 0.2218 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs1049564(T;T) |
| Alt | rs1049564(T;T) |
| Reference | Rs1049564(C;C) |
| Significance | Non-pathogenic |
| Disease | NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM not specified Purine-nucleoside phosphorylase deficiency |
| Variation | info |
| Gene | PNP |
| CLNDBN | NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM not specified Purine-nucleoside phosphorylase deficiency |
| Reversed | 1 |
| HGVS | NC_000014.8:g.20940606G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015029.2, RCV000127500.1, RCV000299797.1, |
[PMID 24107682] Functional analysis of purine nucleoside phosphorylase as a key enzyme in ribavirin metabolism
