rs193302861
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;C) | 5 | Reported in association with Tourette's and trichotillomania |
| (C;C) | 0 | common in clinvar |
| Make rs193302861(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 83880244 |
| Gene | SLITRK1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193302861 |
| dbSNP (classic) | rs193302861 |
| ClinGen | rs193302861 |
| ebi | rs193302861 |
| HLI | rs193302861 |
| Exac | rs193302861 |
| Gnomad | rs193302861 |
| Varsome | rs193302861 |
| LitVar | rs193302861 |
| Map | rs193302861 |
| PheGenI | rs193302861 |
| Biobank | rs193302861 |
| 1000 genomes | rs193302861 |
| hgdp | rs193302861 |
| ensembl | rs193302861 |
| geneview | rs193302861 |
| scholar | rs193302861 |
| rs193302861 | |
| pharmgkb | rs193302861 |
| gwascentral | rs193302861 |
| openSNP | rs193302861 |
| 23andMe | rs193302861 |
| SNPshot | rs193302861 |
| SNPdbe | rs193302861 |
| MSV3d | rs193302861 |
| GWAS Ctlg | rs193302861 |
| Max Magnitude | 5 |
aka c.1264delC (p.Leu422Phefs)
| ClinVar | |
|---|---|
| Risk | rs193302861(-;-) |
| Alt | rs193302861(-;-) |
| Reference | Rs193302861(C;C) |
| Significance | Pathogenic |
| Disease | Tourette Syndrome Trichotillomania |
| Variation | info |
| Gene | SLITRK1 |
| CLNDBN | Tourette Syndrome Trichotillomania |
| Reversed | 1 |
| HGVS | NC_000013.10:g.84454379delG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001644.3, RCV000001645.3, |
