rs143985153
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;T) | 7 | Von Hippel-Lindau syndrome mutation |
| Make rs143985153(A;G) |
| Make rs143985153(G;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 3 |
| Position | 10142116 |
| Gene | VHL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs143985153 |
| dbSNP (classic) | rs143985153 |
| ClinGen | rs143985153 |
| ebi | rs143985153 |
| HLI | rs143985153 |
| Exac | rs143985153 |
| Gnomad | rs143985153 |
| Varsome | rs143985153 |
| LitVar | rs143985153 |
| Map | rs143985153 |
| PheGenI | rs143985153 |
| Biobank | rs143985153 |
| 1000 genomes | rs143985153 |
| hgdp | rs143985153 |
| ensembl | rs143985153 |
| geneview | rs143985153 |
| scholar | rs143985153 |
| rs143985153 | |
| pharmgkb | rs143985153 |
| gwascentral | rs143985153 |
| openSNP | rs143985153 |
| 23andMe | rs143985153 |
| SNPshot | rs143985153 |
| SNPdbe | rs143985153 |
| MSV3d | rs143985153 |
| GWAS Ctlg | rs143985153 |
| Max Magnitude | 7 |
| ClinVar | |
|---|---|
| Risk | rs143985153(G;G) rs143985153(T;T) |
| Alt | rs143985153(G;G) rs143985153(T;T) |
| Reference | Rs143985153(A;A) |
| Significance | Probable-Pathogenic |
| Disease | not provided Von Hippel-Lindau syndrome |
| Variation | info |
| Gene | VHL |
| CLNDBN | not provided Von Hippel-Lindau syndrome |
| Reversed | 0 |
| HGVS | NC_000003.11:g.10183800A>G; NC_000003.11:g.10183800A>T |
| CLNSRC | |
| CLNACC | RCV000034799.1, RCV000208809.1, |
