rs2278008
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2278008(C;T) |
| Make rs2278008(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 33989413 |
| Gene | AMACR, C1QTNF3-AMACR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2278008 |
| dbSNP (classic) | rs2278008 |
| ClinGen | rs2278008 |
| ebi | rs2278008 |
| HLI | rs2278008 |
| Exac | rs2278008 |
| Gnomad | rs2278008 |
| Varsome | rs2278008 |
| LitVar | rs2278008 |
| Map | rs2278008 |
| PheGenI | rs2278008 |
| Biobank | rs2278008 |
| 1000 genomes | rs2278008 |
| hgdp | rs2278008 |
| ensembl | rs2278008 |
| geneview | rs2278008 |
| scholar | rs2278008 |
| rs2278008 | |
| pharmgkb | rs2278008 |
| gwascentral | rs2278008 |
| openSNP | rs2278008 |
| 23andMe | rs2278008 |
| SNPshot | rs2278008 |
| SNPdbe | rs2278008 |
| MSV3d | rs2278008 |
| GWAS Ctlg | rs2278008 |
| GMAF | 0.2332 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20445798
] Chromosome 5p Region SNPs Are Associated with Risk of NSCLC among Women.
[PMID 20875727] Non-synonymous variants in the AMACR gene are associated with schizophrenia.
| ClinVar | |
|---|---|
| Risk | rs2278008(T;T) |
| Alt | rs2278008(T;T) |
| Reference | Rs2278008(C;C) |
| Significance | Other |
| Disease | not specified Alpha-methylacyl-CoA racemase deficiency Oculocutaneous albinism |
| Variation | info |
| Gene | C1QTNF3-AMACR AMACR |
| CLNDBN | not specified Alpha-methylacyl-CoA racemase deficiency Oculocutaneous albinism |
| Reversed | 0 |
| HGVS | NC_000005.9:g.33989518C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000116324.3, RCV000302812.1, RCV000368392.1, |
