rs143141689
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs143141689(C;T) |
| Make rs143141689(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 52397773 |
| Gene | ORC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs143141689 |
| dbSNP (classic) | rs143141689 |
| ClinGen | rs143141689 |
| ebi | rs143141689 |
| HLI | rs143141689 |
| Exac | rs143141689 |
| Gnomad | rs143141689 |
| Varsome | rs143141689 |
| LitVar | rs143141689 |
| Map | rs143141689 |
| PheGenI | rs143141689 |
| Biobank | rs143141689 |
| 1000 genomes | rs143141689 |
| hgdp | rs143141689 |
| ensembl | rs143141689 |
| geneview | rs143141689 |
| scholar | rs143141689 |
| rs143141689 | |
| pharmgkb | rs143141689 |
| gwascentral | rs143141689 |
| openSNP | rs143141689 |
| 23andMe | rs143141689 |
| SNPshot | rs143141689 |
| SNPdbe | rs143141689 |
| MSV3d | rs143141689 |
| GWAS Ctlg | rs143141689 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs143141689(T;T) |
| Alt | rs143141689(T;T) |
| Reference | Rs143141689(C;C) |
| Significance | Pathogenic |
| Disease | Meier-Gorlin syndrome 1 Meier-Gorlin syndrome |
| Variation | info |
| Gene | ORC1 |
| CLNDBN | Meier-Gorlin syndrome 1 Meier-Gorlin syndrome |
| Reversed | 0 |
| HGVS | NC_000001.10:g.52863445C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000023156.3, RCV000302017.1, |
