rs724160001
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs724160001(A;A) |
| Make rs724160001(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 2405815 |
| Gene | RER1, PEX10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs724160001 |
| dbSNP (classic) | rs724160001 |
| ClinGen | rs724160001 |
| ebi | rs724160001 |
| HLI | rs724160001 |
| Exac | rs724160001 |
| Gnomad | rs724160001 |
| Varsome | rs724160001 |
| LitVar | rs724160001 |
| Map | rs724160001 |
| PheGenI | rs724160001 |
| Biobank | rs724160001 |
| 1000 genomes | rs724160001 |
| hgdp | rs724160001 |
| ensembl | rs724160001 |
| geneview | rs724160001 |
| scholar | rs724160001 |
| rs724160001 | |
| pharmgkb | rs724160001 |
| gwascentral | rs724160001 |
| openSNP | rs724160001 |
| 23andMe | rs724160001 |
| SNPshot | rs724160001 |
| SNPdbe | rs724160001 |
| MSV3d | rs724160001 |
| GWAS Ctlg | rs724160001 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs724160001(A;A) rs724160001(T;T) |
| Alt | rs724160001(A;A) rs724160001(T;T) |
| Reference | Rs724160001(G;G) |
| Significance | Pathogenic |
| Disease | Peroxisome biogenesis disorder 6B |
| Variation | info |
| Gene | RER1 PEX10 |
| CLNDBN | Peroxisome biogenesis disorder 6B |
| Reversed | 1 |
| HGVS | NC_000001.10:g.2337254C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000149811.4, |
