rs431905514
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8 | Infantile Parkinsonism-dystonia |
| (A;G) | 3 | Carrier of an infantile Parkinsonism-dystonia mutation |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/142 |
| Chromosome | 5 |
| Position | 1416097 |
| Gene | SLC6A3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs431905514 |
| dbSNP (classic) | rs431905514 |
| ClinGen | rs431905514 |
| ebi | rs431905514 |
| HLI | rs431905514 |
| Exac | rs431905514 |
| Gnomad | rs431905514 |
| Varsome | rs431905514 |
| LitVar | rs431905514 |
| Map | rs431905514 |
| PheGenI | rs431905514 |
| Biobank | rs431905514 |
| 1000 genomes | rs431905514 |
| hgdp | rs431905514 |
| ensembl | rs431905514 |
| geneview | rs431905514 |
| scholar | rs431905514 |
| rs431905514 | |
| pharmgkb | rs431905514 |
| gwascentral | rs431905514 |
| openSNP | rs431905514 |
| 23andMe | rs431905514 |
| SNPshot | rs431905514 |
| SNPdbe | rs431905514 |
| MSV3d | rs431905514 |
| GWAS Ctlg | rs431905514 |
| Max Magnitude | 8 |
c.1031+1G>A
| ClinVar | |
|---|---|
| Risk | Rs431905514(A;A) |
| Alt | Rs431905514(A;A) |
| Reference | Rs431905514(G;G) |
| Significance | Pathogenic |
| Disease | Infantile Parkinsonism-dystonia |
| Variation | info |
| Gene | SLC6A3 |
| CLNDBN | Infantile Parkinsonism-dystonia |
| Reversed | 1 |
| HGVS | NC_000005.9:g.1416212C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000083262.4, |
