rs765998879
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs765998879(A;A) |
| Make rs765998879(A;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 8 |
| Position | 99507850 |
| Gene | VPS13B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs765998879 |
| dbSNP (classic) | rs765998879 |
| ClinGen | rs765998879 |
| ebi | rs765998879 |
| HLI | rs765998879 |
| Exac | rs765998879 |
| Gnomad | rs765998879 |
| Varsome | rs765998879 |
| LitVar | rs765998879 |
| Map | rs765998879 |
| PheGenI | rs765998879 |
| Biobank | rs765998879 |
| 1000 genomes | rs765998879 |
| hgdp | rs765998879 |
| ensembl | rs765998879 |
| geneview | rs765998879 |
| scholar | rs765998879 |
| rs765998879 | |
| pharmgkb | rs765998879 |
| gwascentral | rs765998879 |
| openSNP | rs765998879 |
| 23andMe | rs765998879 |
| SNPshot | rs765998879 |
| SNPdbe | rs765998879 |
| MSV3d | rs765998879 |
| GWAS Ctlg | rs765998879 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs765998879(A;A) |
| Alt | rs765998879(A;A) |
| Reference | Rs765998879(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Cohen syndrome |
| Variation | info |
| Gene | VPS13B |
| CLNDBN | Cohen syndrome |
| Reversed | 0 |
| HGVS | NC_000008.10:g.100520078T>A |
| CLNSRC | |
| CLNACC | RCV000410026.1, |
