rs6006460
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| (G;T) | 1.5 | lower liver triglyceride (fat) levels |
| (T;T) | 1.5 | lower liver triglyceride (fat) levels |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 43946294 |
| Gene | PNPLA3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6006460 |
| dbSNP (classic) | rs6006460 |
| ClinGen | rs6006460 |
| ebi | rs6006460 |
| HLI | rs6006460 |
| Exac | rs6006460 |
| Gnomad | rs6006460 |
| Varsome | rs6006460 |
| LitVar | rs6006460 |
| Map | rs6006460 |
| PheGenI | rs6006460 |
| Biobank | rs6006460 |
| 1000 genomes | rs6006460 |
| hgdp | rs6006460 |
| ensembl | rs6006460 |
| geneview | rs6006460 |
| scholar | rs6006460 |
| rs6006460 | |
| pharmgkb | rs6006460 |
| gwascentral | rs6006460 |
| openSNP | rs6006460 |
| 23andMe | rs6006460 |
| SNPshot | rs6006460 |
| SNPdbe | rs6006460 |
| MSV3d | rs6006460 |
| GWAS Ctlg | rs6006460 |
| GMAF | 0.03168 |
| Max Magnitude | 1.5 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
nature rs6006460(T) (S453I) lower hepatic fat content; by an average of 18% compared to the common (G;G) genotypes, at least as measured in African-Americans sampled.
[PMID 18820647
] Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease.
| ClinVar | |
|---|---|
| Risk | Rs6006460(T;T) |
| Alt | Rs6006460(T;T) |
| Reference | Rs6006460(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Susceptibility to Nonalcoholic Fatty Liver Disease |
| Variation | info |
| Gene | PNPLA3 |
| CLNDBN | Susceptibility to Nonalcoholic Fatty Liver Disease |
| Reversed | 0 |
| HGVS | NC_000022.10:g.44342174G>T |
| CLNSRC | |
| CLNACC | RCV000389671.1, |
