rs121909154
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 7 | Rhizomelic chondrodysplasia punctata type 1 |
| (G;T) | 4 | carrier of one Rhizomelic chondrodysplasia punctata type 1 allele |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 136845620 |
| Gene | PEX7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121909154 |
| dbSNP (classic) | rs121909154 |
| ClinGen | rs121909154 |
| ebi | rs121909154 |
| HLI | rs121909154 |
| Exac | rs121909154 |
| Gnomad | rs121909154 |
| Varsome | rs121909154 |
| LitVar | rs121909154 |
| Map | rs121909154 |
| PheGenI | rs121909154 |
| Biobank | rs121909154 |
| 1000 genomes | rs121909154 |
| hgdp | rs121909154 |
| ensembl | rs121909154 |
| geneview | rs121909154 |
| scholar | rs121909154 |
| rs121909154 | |
| pharmgkb | rs121909154 |
| gwascentral | rs121909154 |
| openSNP | rs121909154 |
| 23andMe | rs121909154 |
| SNPshot | rs121909154 |
| SNPdbe | rs121909154 |
| MSV3d | rs121909154 |
| GWAS Ctlg | rs121909154 |
| Max Magnitude | 7 |
PEX7 Tyr115Ter or Y115X
Rhizomelic chondrodysplasia punctata type 1
| ClinVar | |
|---|---|
| Risk | Rs121909154(G;G) |
| Alt | Rs121909154(G;G) |
| Reference | Rs121909154(T;T) |
| Significance | Pathogenic |
| Disease | Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1 |
| Variation | info |
| Gene | PEX7 |
| CLNDBN | Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1 |
| Reversed | 0 |
| HGVS | NC_000006.11:g.137166758T>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000008228.2, RCV000411170.1, |
[PMID 12325024] Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
