rs55687265
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 3 | risk factor for systemic sclerosis |
| (C;G) | 2.2 | risk factor for systemic sclerosis |
| (G;G) | 0 | common/normal |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 15 |
| Position | 49934162 |
| Gene | ATP8B4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs55687265 |
| dbSNP (classic) | rs55687265 |
| ClinGen | rs55687265 |
| ebi | rs55687265 |
| HLI | rs55687265 |
| Exac | rs55687265 |
| Gnomad | rs55687265 |
| Varsome | rs55687265 |
| LitVar | rs55687265 |
| Map | rs55687265 |
| PheGenI | rs55687265 |
| Biobank | rs55687265 |
| 1000 genomes | rs55687265 |
| hgdp | rs55687265 |
| ensembl | rs55687265 |
| geneview | rs55687265 |
| scholar | rs55687265 |
| rs55687265 | |
| pharmgkb | rs55687265 |
| gwascentral | rs55687265 |
| openSNP | rs55687265 |
| 23andMe | rs55687265 |
| SNPshot | rs55687265 |
| SNPdbe | rs55687265 |
| MSV3d | rs55687265 |
| GWAS Ctlg | rs55687265 |
| Max Magnitude | 3 |
rs55687265, also known as c.1308C>G, p.Phe43Leu and F436L, is a rare variant in the ATP8B4 gene on chromosome 15.
Exome sequencing followed by a replication cohort study and then a meta-analysis determined that the rs55687265(C) allele, as oriented in dbSNP, is associated with higher risk for systemic sclerosis (SSc; meta-analysis odds ratio 2.5, p = 1.92 x 10e-7).[PMID 26473621
]
