rs1061235
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0.1 | Normal carbamazepine sensitivity; common in clinvar |
| (A;T) | 2.9 | 26% risk of bad reaction to anti-epileptic carbamazepine |
| (T;T) | 4 | 26% risk of bad reaction to anti-epileptic carbamazepine |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 29945521 |
| Gene | HLA-A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1061235 |
| dbSNP (classic) | rs1061235 |
| ClinGen | rs1061235 |
| ebi | rs1061235 |
| HLI | rs1061235 |
| Exac | rs1061235 |
| Gnomad | rs1061235 |
| Varsome | rs1061235 |
| LitVar | rs1061235 |
| Map | rs1061235 |
| PheGenI | rs1061235 |
| Biobank | rs1061235 |
| 1000 genomes | rs1061235 |
| hgdp | rs1061235 |
| ensembl | rs1061235 |
| geneview | rs1061235 |
| scholar | rs1061235 |
| rs1061235 | |
| pharmgkb | rs1061235 |
| gwascentral | rs1061235 |
| openSNP | rs1061235 |
| 23andMe | rs1061235 |
| SNPshot | rs1061235 |
| SNPdbe | rs1061235 |
| MSV3d | rs1061235 |
| GWAS Ctlg | rs1061235 |
| GMAF | 0.07208 |
| Max Magnitude | 4 |
| GWAS snp | |
|---|---|
| PMID | [PMID 21428769 ]
|
| Trait | |
| Title | HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans |
| Risk Allele | |
| P-val | 1E-7 |
| Odds Ratio | 9.1200 [4.03-20.65] |
rs1061235(T) serves as a proxy for the HLA-A*3101 allele.[PMID 16998491]
The HLA-A*3101 allele, found in about 2 - 5% of Northern Europeans, is significantly associated with carbamazepine hypersensitivity syndrome, with odds ratios above 10. The presence of this HLA allele increases the risk from 5% to 26%, whereas its absence reduces the risk from 5% to 4%.[PMID 21428769]
| ClinVar | |
|---|---|
| Risk | Rs1061235(T;T) |
| Alt | Rs1061235(T;T) |
| Reference | Rs1061235(A;A) |
| Significance | Other |
| Disease | Carbamazepine hypersensitivity |
| Variation | info |
| Gene | HLA-A |
| CLNDBN | Carbamazepine hypersensitivity |
| Reversed | 0 |
| HGVS | NC_000006.11:g.29913298A>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000022618.3, |
[PMID 26083016] Accuracy of SNPs to predict risk of HLA alleles associated with drug-induced hypersensitivity events across racial groups
