rs1135840
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2 | Homozygous for CYP2D6 variants (non-CYP2D6*1) |
| (C;G) | 1.5 | Carrier of at least one CYP2D6 variant (non-CYP2D6*1) |
| (G;G) | 0 | normal |
| Reference | GRCh37 37.1/131 |
| Chromosome | 22 |
| Position | 42126611 |
| Gene | CYP2D6, LOC102723722 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1135840 |
| dbSNP (classic) | rs1135840 |
| ClinGen | rs1135840 |
| ebi | rs1135840 |
| HLI | rs1135840 |
| Exac | rs1135840 |
| Gnomad | rs1135840 |
| Varsome | rs1135840 |
| LitVar | rs1135840 |
| Map | rs1135840 |
| PheGenI | rs1135840 |
| Biobank | rs1135840 |
| 1000 genomes | rs1135840 |
| hgdp | rs1135840 |
| ensembl | rs1135840 |
| geneview | rs1135840 |
| scholar | rs1135840 |
| rs1135840 | |
| pharmgkb | rs1135840 |
| gwascentral | rs1135840 |
| openSNP | rs1135840 |
| 23andMe | rs1135840 |
| SNPshot | rs1135840 |
| SNPdbe | rs1135840 |
| MSV3d | rs1135840 |
| GWAS Ctlg | rs1135840 |
| GMAF | 0.4008 |
| Max Magnitude | 2 |
rs1135840, also known as 4180G>C or S486T, is a SNP in the CYP2D6 gene.
The wild type (normal) allele at this SNP is (G). The (C) variant indicates the presence of a non-wild type CYP2D6 variant, but it appears in many different variants so it can not be used to determine the presence of any particular variant.
Please be careful when interpreting results for this SNP as it is in dbSNP and SNPedia in minus orientation where the risk allele is C, but test results are usually in plus orientation where the risk allele is G. This SNP has an ambiguous flip which can make this very confusing.
[PMID 18698231
] Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.
| ClinVar | |
|---|---|
| Risk | Rs1135840(G;G) |
| Alt | Rs1135840(G;G) |
| Reference | Rs1135840(C;C) |
| Significance | Drug-response |
| Disease | Debrisoquine |
| Variation | info |
| Gene | CYP2D6 |
| CLNDBN | Debrisoquine, ultrarapid metabolism of |
| Reversed | 1 |
| HGVS | NC_000022.10:g.42522613G\x3d |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018391.27, |
[PMID 22722500] Association study of 27 annotated genes for clozapine pharmacogenetics: validation of preexisting studies and identification of a new candidate gene, ABCB1, for treatment response.
[PMID 23133420] Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.
