rs182018947
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs182018947(A;C) |
| Make rs182018947(C;C) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 15 |
| Position | 48767448 |
| Gene | CEP152 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs182018947 |
| dbSNP (classic) | rs182018947 |
| ClinGen | rs182018947 |
| ebi | rs182018947 |
| HLI | rs182018947 |
| Exac | rs182018947 |
| Gnomad | rs182018947 |
| Varsome | rs182018947 |
| LitVar | rs182018947 |
| Map | rs182018947 |
| PheGenI | rs182018947 |
| Biobank | rs182018947 |
| 1000 genomes | rs182018947 |
| hgdp | rs182018947 |
| ensembl | rs182018947 |
| geneview | rs182018947 |
| scholar | rs182018947 |
| rs182018947 | |
| pharmgkb | rs182018947 |
| gwascentral | rs182018947 |
| openSNP | rs182018947 |
| 23andMe | rs182018947 |
| SNPshot | rs182018947 |
| SNPdbe | rs182018947 |
| MSV3d | rs182018947 |
| GWAS Ctlg | rs182018947 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs182018947(C;C) rs182018947(G;G) |
| Alt | rs182018947(C;C) rs182018947(G;G) |
| Reference | Rs182018947(A;A) |
| Significance | Pathogenic |
| Disease | Primary autosomal recessive microcephaly 9 CEP152-Related Disorders not provided Seckel syndrome 5 |
| Variation | info |
| Gene | CEP152 |
| CLNDBN | Primary autosomal recessive microcephaly 9 CEP152-Related Disorders not provided Seckel syndrome 5 |
| Reversed | 0 |
| HGVS | NC_000015.9:g.49059645A>C |
| CLNSRC | Courtagen Life Sciences |
| CLNACC | RCV000145609.2, RCV000270590.1, RCV000286958.1, RCV000490391.1, |
