rs1057141
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs1057141(A;G) |
| Make rs1057141(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 32850997 |
| Gene | TAP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1057141 |
| dbSNP (classic) | rs1057141 |
| ClinGen | rs1057141 |
| ebi | rs1057141 |
| HLI | rs1057141 |
| Exac | rs1057141 |
| Gnomad | rs1057141 |
| Varsome | rs1057141 |
| LitVar | rs1057141 |
| Map | rs1057141 |
| PheGenI | rs1057141 |
| Biobank | rs1057141 |
| 1000 genomes | rs1057141 |
| hgdp | rs1057141 |
| ensembl | rs1057141 |
| geneview | rs1057141 |
| scholar | rs1057141 |
| rs1057141 | |
| pharmgkb | rs1057141 |
| gwascentral | rs1057141 |
| openSNP | rs1057141 |
| 23andMe | rs1057141 |
| SNPshot | rs1057141 |
| SNPdbe | rs1057141 |
| MSV3d | rs1057141 |
| GWAS Ctlg | rs1057141 |
| Merged from | Rs4148880 |
| GMAF | 0.2034 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs1057141(G;G) |
| Alt | rs1057141(G;G) |
| Reference | Rs1057141(A;A) |
| Significance | Non-pathogenic |
| Disease | PEPTIDE TRANSPORTER PSF1 POLYMORPHISM not specified |
| Variation | info |
| Gene | TAP1 |
| CLNDBN | PEPTIDE TRANSPORTER PSF1 POLYMORPHISM not specified |
| Reversed | 1 |
| HGVS | NC_000006.11:g.32818774T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014732.2, RCV000455466.1, |
[PMID 12830434
] BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy.
[PMID 19387463] Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC.
[PMID 23272491] [Relationship between rs1057141 and rs1135216 polymorphisms of TAP1 gene and allergic rhinitis in Xinjiang Han people]
[PMID 23395648] Genetic evidence of TAP1 gene variant as a susceptibility factor in Indian leprosy patients.
