rs513349
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs513349(A;A) |
| Make rs513349(A;G) |
| Make rs513349(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 33573942 |
| Gene | BAK1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs513349 |
| dbSNP (classic) | rs513349 |
| ClinGen | rs513349 |
| ebi | rs513349 |
| HLI | rs513349 |
| Exac | rs513349 |
| Gnomad | rs513349 |
| Varsome | rs513349 |
| LitVar | rs513349 |
| Map | rs513349 |
| PheGenI | rs513349 |
| Biobank | rs513349 |
| 1000 genomes | rs513349 |
| hgdp | rs513349 |
| ensembl | rs513349 |
| geneview | rs513349 |
| scholar | rs513349 |
| rs513349 | |
| pharmgkb | rs513349 |
| gwascentral | rs513349 |
| openSNP | rs513349 |
| 23andMe | rs513349 |
| SNPshot | rs513349 |
| SNPdbe | rs513349 |
| MSV3d | rs513349 |
| GWAS Ctlg | rs513349 |
| GMAF | 0.4174 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
BAK1 gene SNPs rs513349 [OR=0.57(0.46-0.72), p=8.57x10(-7)] and rs5745582 [OR=1.61(1.26-2.04), p=1.08x10(-4)] were associated with autoimmune rheumatic diseases (AIRDs) in a study of 719 Colombian women.[PMID 19282307]
| GWAS snp | |
|---|---|
| PMID | [PMID 23263863 ]
|
| Trait | Platelet counts |
| Title | GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. |
| Risk Allele | A |
| P-val | 2E-12 |
| Odds Ratio | 7.75 [5.59-9.92] unit decrease |
[PMID 32518871] APOL1 Kidney-Risk Variants Induce Mitochondrial Fission.
