rs397514750
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs397514750(G;T) |
| Make rs397514750(T;T) |
| Reference | GRCh37.p10 37.5/138 |
| Chromosome | 9 |
| Position | 2650382 |
| Gene | VLDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397514750 |
| dbSNP (classic) | rs397514750 |
| ClinGen | rs397514750 |
| ebi | rs397514750 |
| HLI | rs397514750 |
| Exac | rs397514750 |
| Gnomad | rs397514750 |
| Varsome | rs397514750 |
| LitVar | rs397514750 |
| Map | rs397514750 |
| PheGenI | rs397514750 |
| Biobank | rs397514750 |
| 1000 genomes | rs397514750 |
| hgdp | rs397514750 |
| ensembl | rs397514750 |
| geneview | rs397514750 |
| scholar | rs397514750 |
| rs397514750 | |
| pharmgkb | rs397514750 |
| gwascentral | rs397514750 |
| openSNP | rs397514750 |
| 23andMe | rs397514750 |
| SNPshot | rs397514750 |
| SNPdbe | rs397514750 |
| MSV3d | rs397514750 |
| GWAS Ctlg | rs397514750 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397514750(T;T) |
| Alt | rs397514750(T;T) |
| Reference | Rs397514750(G;G) |
| 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.2650382G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000054559.19, |
