Rs1053874
From SNPedia
| Orientation | plus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1053874 |
| PheGenI | rs1053874 |
| nextbio | rs1053874 |
| hapmap | rs1053874 |
| 1000 genomes | rs1053874 |
| hgdp | rs1053874 |
| ensembl | rs1053874 |
| gopubmed | rs1053874 |
| geneview | rs1053874 |
| scholar | rs1053874 |
| rs1053874 | |
| pharmgkb | rs1053874 |
| gwascentral | rs1053874 |
| openSNP | rs1053874 |
| 23andMe | rs1053874 |
| 23andMe all | rs1053874 |
| SNP Nexus | |
| SNPshot | rs1053874 |
| SNPdbe | rs1053874 |
| MSV3d | rs1053874 |
| Gene | DNASE1, TRAP1 |
| Chromosome | 16 |
| Orientation | plus |
| Position | 3707747 |
| Reference | GRCh37.p2 37.2/134 |
| Max Magnitude |
| Make rs1053874(A;A) |
| Make rs1053874(A;G) |
| Make rs1053874(G;G) |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
| ClinVar | |
|---|---|
| Risk | rs1053874(A;A) |
| Normal | rs1053874(G;G) |
| Significance | 255 |
| Disease | |
| ClinVar | info |
| Gene | DNASE1 |
| CLNDBN | |
| Reversed | 0 |
| CLNHGVS | NC_000016.9:g.3707747G>A |
| CLNSRC | |
[PMID 15569484] Single nucleotide polymorphisms of deoxyribonuclease I and their expression in Chinese systemic lupus erythematosus patients.
[PMID 16449364] Association of a non-synonymous single-nucleotide polymorphism of DNASEI with SLE susceptibility.
| GET Evidence | |
|---|---|
| DNASE1-R244Q | |
| aa_change | Arg244Gln |
| aa_change_short | R244Q |
| impact | not reviewed |
| qualified_impact | Insufficiently evaluated not reviewed |
| overall_frequency | 0.453337 |
| summary | |
