rs121434455
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs121434455(C;C) |
| Make rs121434455(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 92504812 |
| Gene | PEX1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121434455 |
| dbSNP (classic) | rs121434455 |
| ClinGen | rs121434455 |
| ebi | rs121434455 |
| HLI | rs121434455 |
| Exac | rs121434455 |
| Gnomad | rs121434455 |
| Varsome | rs121434455 |
| LitVar | rs121434455 |
| Map | rs121434455 |
| PheGenI | rs121434455 |
| Biobank | rs121434455 |
| 1000 genomes | rs121434455 |
| hgdp | rs121434455 |
| ensembl | rs121434455 |
| geneview | rs121434455 |
| scholar | rs121434455 |
| rs121434455 | |
| pharmgkb | rs121434455 |
| gwascentral | rs121434455 |
| openSNP | rs121434455 |
| 23andMe | rs121434455 |
| SNPshot | rs121434455 |
| SNPdbe | rs121434455 |
| MSV3d | rs121434455 |
| GWAS Ctlg | rs121434455 |
| Merged from | Rs28939678 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121434455(C;C) |
| Alt | rs121434455(C;C) |
| Reference | Rs121434455(T;T) |
| Significance | Other |
| Disease | Zellweger syndrome |
| Variation | info |
| Gene | PEX1 |
| CLNDBN | Zellweger syndrome |
| Reversed | 1 |
| HGVS | NC_000007.13:g.92134126A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007949.7, |
[PMID 11439091
] Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.
