rs1057517257
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (TTAGGAGGGTGAAAGTAAGTTTTCATCTT;TTAGGAGGGTGAAAGTAAGTTTTCATCTT) | 0 | common in clinvar |
| Make rs1057517257(-;-) |
| Make rs1057517257(-;AGGAGGGTGAAAGTAAGTTTTCATCTTTT) |
| Make rs1057517257(AGGAGGGTGAAAGTAAGTTTTCATCTTTT;AGGAGGGTGAAAGTAAGTTTTCATCTTTT) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 6 |
| Position | 136869992 |
| Gene | PEX7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1057517257 |
| dbSNP (classic) | rs1057517257 |
| ClinGen | rs1057517257 |
| ebi | rs1057517257 |
| HLI | rs1057517257 |
| Exac | rs1057517257 |
| Gnomad | rs1057517257 |
| Varsome | rs1057517257 |
| LitVar | rs1057517257 |
| Map | rs1057517257 |
| PheGenI | rs1057517257 |
| Biobank | rs1057517257 |
| 1000 genomes | rs1057517257 |
| hgdp | rs1057517257 |
| ensembl | rs1057517257 |
| geneview | rs1057517257 |
| scholar | rs1057517257 |
| rs1057517257 | |
| pharmgkb | rs1057517257 |
| gwascentral | rs1057517257 |
| openSNP | rs1057517257 |
| 23andMe | rs1057517257 |
| SNPshot | rs1057517257 |
| SNPdbe | rs1057517257 |
| MSV3d | rs1057517257 |
| GWAS Ctlg | rs1057517257 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1057517257(-;-) |
| Alt | rs1057517257(-;-) |
| Reference | Rs1057517257(TTAGGAGGGTGAAAGTAAGTTTTCATCTT;TTAGGAGGGTGAAAGTAAGTTTTCATCTT) |
| Significance | Probable-Pathogenic |
| Disease | Rhizomelic chondrodysplasia punctata type 1 |
| Variation | info |
| Gene | PEX7 |
| CLNDBN | Rhizomelic chondrodysplasia punctata type 1 |
| Reversed | 0 |
| HGVS | NC_000006.11:g.137191130_137191158del29 |
| CLNSRC | |
| CLNACC | RCV000409579.1, |
