rs80338905
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80338905(C;T) |
| Make rs80338905(T;T) |
| Reference | GRCh37.p5 37.3/137 |
| Chromosome | 9 |
| Position | 2645603 |
| Gene | VLDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338905 |
| dbSNP (classic) | rs80338905 |
| ClinGen | rs80338905 |
| ebi | rs80338905 |
| HLI | rs80338905 |
| Exac | rs80338905 |
| Gnomad | rs80338905 |
| Varsome | rs80338905 |
| LitVar | rs80338905 |
| Map | rs80338905 |
| PheGenI | rs80338905 |
| Biobank | rs80338905 |
| 1000 genomes | rs80338905 |
| hgdp | rs80338905 |
| ensembl | rs80338905 |
| geneview | rs80338905 |
| scholar | rs80338905 |
| rs80338905 | |
| pharmgkb | rs80338905 |
| gwascentral | rs80338905 |
| openSNP | rs80338905 |
| 23andMe | rs80338905 |
| SNPshot | rs80338905 |
| SNPdbe | rs80338905 |
| MSV3d | rs80338905 |
| GWAS Ctlg | rs80338905 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338905(A;A) rs80338905(T;T) |
| Alt | rs80338905(A;A) rs80338905(T;T) |
| Reference | Rs80338905(C;C) |
| Significance | Pathogenic |
| Disease | Cerebellar ataxia |
| Variation | info |
| Gene | VLDLR |
| CLNDBN | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.2645603C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000020555.22, |
[PMID 18043714] Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.
