rs386834080
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs386834080(C;T) |
| Make rs386834080(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 99442617 |
| Gene | VPS13B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386834080 |
| dbSNP (classic) | rs386834080 |
| ClinGen | rs386834080 |
| ebi | rs386834080 |
| HLI | rs386834080 |
| Exac | rs386834080 |
| Gnomad | rs386834080 |
| Varsome | rs386834080 |
| LitVar | rs386834080 |
| Map | rs386834080 |
| PheGenI | rs386834080 |
| Biobank | rs386834080 |
| 1000 genomes | rs386834080 |
| hgdp | rs386834080 |
| ensembl | rs386834080 |
| geneview | rs386834080 |
| scholar | rs386834080 |
| rs386834080 | |
| pharmgkb | rs386834080 |
| gwascentral | rs386834080 |
| openSNP | rs386834080 |
| 23andMe | rs386834080 |
| SNPshot | rs386834080 |
| SNPdbe | rs386834080 |
| MSV3d | rs386834080 |
| GWAS Ctlg | rs386834080 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386834080(T;T) |
| Alt | rs386834080(T;T) |
| Reference | Rs386834080(C;C) |
| Significance | Pathogenic |
| Disease | Cohen syndrome not provided |
| Variation | info |
| Gene | VPS13B |
| CLNDBN | Cohen syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000008.10:g.100454845C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000050071.1, RCV000422497.1, |
[PMID 17990063] Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
[PMID 20461111
] High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
