Rs2254287
From SNPedia
| Orientation | minus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2254287 |
| PheGenI | rs2254287 |
| nextbio | rs2254287 |
| hapmap | rs2254287 |
| 1000 genomes | rs2254287 |
| hgdp | rs2254287 |
| ensembl | rs2254287 |
| gopubmed | rs2254287 |
| geneview | rs2254287 |
| scholar | rs2254287 |
| rs2254287 | |
| pharmgkb | rs2254287 |
| gwascentral | rs2254287 |
| openSNP | rs2254287 |
| 23andMe | rs2254287 |
| 23andMe all | rs2254287 |
| SNP Nexus | |
| SNPshot | rs2254287 |
| SNPdbe | rs2254287 |
| MSV3d | rs2254287 |
| Gene | COL11A2 |
| Chromosome | 6 |
| Orientation | minus |
| GMAF | 0.457 |
| Position | 33143948 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude |
| Make rs2254287(C;C) |
| Make rs2254287(C;G) |
| Make rs2254287(G;G) |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
| GWAS | |
|---|---|
| SNP | rs2254287 |
| PubMedID | [PMID 18193043] |
| Condition | LDL cholesterol |
| Gene | B3GALT4 |
| Risk Allele | G |
| pValue | 5.00E-008 |
| OR | 1.91 |
| 95% CI | NR) mg/dl highe |
[PMID 19060910] Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
| GET Evidence | |
|---|---|
| rs2254287 | |
| aa_change | |
| aa_change_short | |
| impact | pathogenic |
| qualified_impact | Insufficiently evaluated pathogenic |
| overall_frequency | 0.539062 |
| summary | |
