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, |