rs180177363
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs180177363(-;AG) |
| Make rs180177363(AG;AG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 99641942 |
| Gene | VPS13B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs180177363 |
| dbSNP (classic) | rs180177363 |
| ClinGen | rs180177363 |
| ebi | rs180177363 |
| HLI | rs180177363 |
| Exac | rs180177363 |
| Gnomad | rs180177363 |
| Varsome | rs180177363 |
| LitVar | rs180177363 |
| Map | rs180177363 |
| PheGenI | rs180177363 |
| Biobank | rs180177363 |
| 1000 genomes | rs180177363 |
| hgdp | rs180177363 |
| ensembl | rs180177363 |
| geneview | rs180177363 |
| scholar | rs180177363 |
| rs180177363 | |
| pharmgkb | rs180177363 |
| gwascentral | rs180177363 |
| openSNP | rs180177363 |
| 23andMe | rs180177363 |
| SNPshot | rs180177363 |
| SNPdbe | rs180177363 |
| MSV3d | rs180177363 |
| GWAS Ctlg | rs180177363 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs180177363(AG;AG) |
| Alt | rs180177363(AG;AG) |
| Reference | Rs180177363(-;-) |
| Significance | Pathogenic |
| Disease | Cohen syndrome not provided |
| Variation | info |
| Gene | VPS13B |
| CLNDBN | Cohen syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000008.10:g.100654169_100654170dupAG |
| CLNSRC | ClinVar |
| CLNACC | RCV000050086.2, RCV000058899.1, |
[PMID 16648375
] Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
[PMID 12730828] Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.
