rs1129187
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (G;T) | 0 |
| Make rs1129187(A;A) |
| Make rs1129187(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 42964462 |
| Gene | PEX6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1129187 |
| dbSNP (classic) | rs1129187 |
| ClinGen | rs1129187 |
| ebi | rs1129187 |
| HLI | rs1129187 |
| Exac | rs1129187 |
| Gnomad | rs1129187 |
| Varsome | rs1129187 |
| LitVar | rs1129187 |
| Map | rs1129187 |
| PheGenI | rs1129187 |
| Biobank | rs1129187 |
| 1000 genomes | rs1129187 |
| hgdp | rs1129187 |
| ensembl | rs1129187 |
| geneview | rs1129187 |
| scholar | rs1129187 |
| rs1129187 | |
| pharmgkb | rs1129187 |
| gwascentral | rs1129187 |
| openSNP | rs1129187 |
| 23andMe | rs1129187 |
| SNPshot | rs1129187 |
| SNPdbe | rs1129187 |
| MSV3d | rs1129187 |
| GWAS Ctlg | rs1129187 |
| GMAF | 0.3287 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs1129187(A;A) rs1129187(G;G) |
| Alt | rs1129187(A;A) rs1129187(G;G) |
| Reference | Rs1129187(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Zellweger syndrome |
| Variation | info |
| Gene | PEX6 |
| CLNDBN | not specified Zellweger syndrome |
| Reversed | 1 |
| HGVS | NC_000006.11:g.42932200G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000078574.6, RCV000407233.1, |
