rs2281135
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs2281135(C;C) |
| Make rs2281135(C;T) |
| Make rs2281135(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 43936690 |
| Gene | PNPLA3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2281135 |
| dbSNP (classic) | rs2281135 |
| ClinGen | rs2281135 |
| ebi | rs2281135 |
| HLI | rs2281135 |
| Exac | rs2281135 |
| Gnomad | rs2281135 |
| Varsome | rs2281135 |
| LitVar | rs2281135 |
| Map | rs2281135 |
| PheGenI | rs2281135 |
| Biobank | rs2281135 |
| 1000 genomes | rs2281135 |
| hgdp | rs2281135 |
| ensembl | rs2281135 |
| geneview | rs2281135 |
| scholar | rs2281135 |
| rs2281135 | |
| pharmgkb | rs2281135 |
| gwascentral | rs2281135 |
| openSNP | rs2281135 |
| 23andMe | rs2281135 |
| SNPshot | rs2281135 |
| SNPdbe | rs2281135 |
| MSV3d | rs2281135 |
| GWAS Ctlg | rs2281135 |
| GMAF | 0.2723 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 18940312 ]
|
| Trait | Plasma levels of liver enzymes |
| Title | Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes |
| Risk Allele | T |
| P-val | 8E-16 |
| Odds Ratio | 0.06 [0.046-0.074] U/L increase |
| OMIM | 612364 |
| Desc | ALANINE AMINOTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS |
| Variant | |
| Related | also |
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 22863562] PNPLA3 polymorphisms and liver aminotransferase levels in a Mexican American population.
[PMID 28989566] Regional differences in genetic susceptibility to non-alcoholic liver disease in two distinct Indian ethnicities.
[PMID 30978214] An exploratory phenome wide association study linking asthma and liver disease genetic variants to electronic health records from the Estonian Biobank.
