rs1800454
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1.5 | affected |
| (A;G) | 1.3 | carrier |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 32832635 |
| Gene | TAP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800454 |
| dbSNP (classic) | rs1800454 |
| ClinGen | rs1800454 |
| ebi | rs1800454 |
| HLI | rs1800454 |
| Exac | rs1800454 |
| Gnomad | rs1800454 |
| Varsome | rs1800454 |
| LitVar | rs1800454 |
| Map | rs1800454 |
| PheGenI | rs1800454 |
| Biobank | rs1800454 |
| 1000 genomes | rs1800454 |
| hgdp | rs1800454 |
| ensembl | rs1800454 |
| geneview | rs1800454 |
| scholar | rs1800454 |
| rs1800454 | |
| pharmgkb | rs1800454 |
| gwascentral | rs1800454 |
| openSNP | rs1800454 |
| 23andMe | rs1800454 |
| SNPshot | rs1800454 |
| SNPdbe | rs1800454 |
| MSV3d | rs1800454 |
| GWAS Ctlg | rs1800454 |
| Merged from | Rs104893997 |
| GMAF | 0.1538 |
| Max Magnitude | 1.5 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs1800454(A;A) |
| Alt | Rs1800454(A;A) |
| Reference | Rs1800454(G;G) |
| Significance | Non-pathogenic |
| Disease | PEPTIDE TRANSPORTER PSF2 POLYMORPHISM not specified |
| Variation | info |
| Gene | TAP2 |
| CLNDBN | PEPTIDE TRANSPORTER PSF2 POLYMORPHISM not specified |
| Reversed | 1 |
| HGVS | NC_000006.11:g.32800412C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014727.2, RCV000455533.1, |
[PMID 19387463
] Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC.
Categories:
- Is a snp
- In dbSNP
- SNPs on chromosome 6
- Has genotype
- Has population
- Uses omim
- On chip 23andMe v1
- On chip 23andMe v2
- On chip 23andMe v3
- On chip 23andMe v4
- On chip Affy GenomeWide 6
- On chip Affy500k
- On chip Ancestry v2
- On chip FTDNA2
- On chip FTDNA
- On chip HumanOmni1Quad
- On chip Illumina Human 1M
- On chip 23andMe v5
- On chip Ancestry v2c
- On chip Ancestry v2d
