rs12982744
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs12982744(C;C) |
| Make rs12982744(C;G) |
| Make rs12982744(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 2177194 |
| Gene | DOT1L |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12982744 |
| dbSNP (classic) | rs12982744 |
| ClinGen | rs12982744 |
| ebi | rs12982744 |
| HLI | rs12982744 |
| Exac | rs12982744 |
| Gnomad | rs12982744 |
| Varsome | rs12982744 |
| LitVar | rs12982744 |
| Map | rs12982744 |
| PheGenI | rs12982744 |
| Biobank | rs12982744 |
| 1000 genomes | rs12982744 |
| hgdp | rs12982744 |
| ensembl | rs12982744 |
| geneview | rs12982744 |
| scholar | rs12982744 |
| rs12982744 | |
| pharmgkb | rs12982744 |
| gwascentral | rs12982744 |
| openSNP | rs12982744 |
| 23andMe | rs12982744 |
| SNPshot | rs12982744 |
| SNPdbe | rs12982744 |
| MSV3d | rs12982744 |
| GWAS Ctlg | rs12982744 |
| GMAF | 0.2585 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 22566624
] Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis
| GWAS snp | |
|---|---|
| PMID | [PMID 20881960]
|
| Trait | Height |
| Title | Hundreds of variants clustered in genomic loci and biological pathways affect human height. |
| Risk Allele | C |
| P-val | 3E-16 |
| Odds Ratio | .03 [NR] unit decrease |
[PMID 23505243] The DOT1L rs12982744 polymorphism is associated with osteoarthritis of the hip with genome-wide statistical significance in males.
[PMID 25005768] Association Between Single Nucleotide Polymorphisms of DOT1L Gene and Risk of Knee Osteoarthritis in a Chinese Han Population
