rs267607068
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8 | Infantile Parkinsonism-dystonia |
| (A;T) | 3 | Carrier of an infantile Parkinsonism-dystonia mutation |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 1414744 |
| Gene | SLC6A3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267607068 |
| dbSNP (classic) | rs267607068 |
| ClinGen | rs267607068 |
| ebi | rs267607068 |
| HLI | rs267607068 |
| Exac | rs267607068 |
| Gnomad | rs267607068 |
| Varsome | rs267607068 |
| LitVar | rs267607068 |
| Map | rs267607068 |
| PheGenI | rs267607068 |
| Biobank | rs267607068 |
| 1000 genomes | rs267607068 |
| hgdp | rs267607068 |
| ensembl | rs267607068 |
| geneview | rs267607068 |
| scholar | rs267607068 |
| rs267607068 | |
| pharmgkb | rs267607068 |
| gwascentral | rs267607068 |
| openSNP | rs267607068 |
| 23andMe | rs267607068 |
| SNPshot | rs267607068 |
| SNPdbe | rs267607068 |
| MSV3d | rs267607068 |
| GWAS Ctlg | rs267607068 |
| Max Magnitude | 8 |
c.1103T>A (p.Leu368Gln)
23andMe calls this i5005473
| ClinVar | |
|---|---|
| Risk | Rs267607068(A;A) |
| Alt | Rs267607068(A;A) |
| Reference | Rs267607068(T;T) |
| Significance | Pathogenic |
| Disease | Infantile Parkinsonism-dystonia |
| Variation | info |
| Gene | SLC6A3 |
| CLNDBN | Infantile Parkinsonism-dystonia |
| Reversed | 1 |
| HGVS | NC_000005.9:g.1414859A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018249.28, |
