Rs2395148
From SNPedia
| Orientation | plus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2395148 |
| PheGenI | rs2395148 |
| nextbio | rs2395148 |
| hapmap | rs2395148 |
| 1000 genomes | rs2395148 |
| hgdp | rs2395148 |
| ensembl | rs2395148 |
| gopubmed | rs2395148 |
| geneview | rs2395148 |
| scholar | rs2395148 |
| rs2395148 | |
| pharmgkb | rs2395148 |
| gwascentral | rs2395148 |
| openSNP | rs2395148 |
| 23andMe | rs2395148 |
| 23andMe all | rs2395148 |
| SNP Nexus | |
| SNPshot | rs2395148 |
| SNPdbe | rs2395148 |
| MSV3d | rs2395148 |
| Gene | C6orf10 |
| Chromosome | 6 |
| Orientation | plus |
| GMAF | 0.0705 |
| Position | 32321554 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 0 |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs2395148(G;T) |
| Make rs2395148(T;T) |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
| GWAS | |
|---|---|
| SNP | rs2395148 |
| PubMedID | [PMID 18576341] |
| Condition | Juvenile idiopathic arthritis |
| Gene | HLA-DRB1 |
| Risk Allele | |
| pValue | 2.00E-010 |
| OR | 5.37 |
| 95% CI | 3.02-9.56 |
[PMID 19458352] Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.
| GET Evidence | |
|---|---|
| rs2395148 | |
| aa_change | |
| aa_change_short | |
| impact | pathogenic |
| qualified_impact | Insufficiently evaluated pathogenic |
| overall_frequency | 0.0416667 |
| summary | |