rs386834112
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs386834112(A;A) |
| Make rs386834112(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 99818486 |
| Gene | VPS13B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386834112 |
| dbSNP (classic) | rs386834112 |
| ClinGen | rs386834112 |
| ebi | rs386834112 |
| HLI | rs386834112 |
| Exac | rs386834112 |
| Gnomad | rs386834112 |
| Varsome | rs386834112 |
| LitVar | rs386834112 |
| Map | rs386834112 |
| PheGenI | rs386834112 |
| Biobank | rs386834112 |
| 1000 genomes | rs386834112 |
| hgdp | rs386834112 |
| ensembl | rs386834112 |
| geneview | rs386834112 |
| scholar | rs386834112 |
| rs386834112 | |
| pharmgkb | rs386834112 |
| gwascentral | rs386834112 |
| openSNP | rs386834112 |
| 23andMe | rs386834112 |
| SNPshot | rs386834112 |
| SNPdbe | rs386834112 |
| MSV3d | rs386834112 |
| GWAS Ctlg | rs386834112 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386834112(A;A) |
| Alt | rs386834112(A;A) |
| Reference | Rs386834112(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Cohen syndrome |
| Variation | info |
| Gene | VPS13B |
| CLNDBN | Cohen syndrome |
| Reversed | 0 |
| HGVS | NC_000008.10:g.100830714G>A |
| CLNSRC | ClinVar |
| CLNACC | RCV000050106.1, |
[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.
