rs191284403
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5 | Reported in association with Tourette's and trichotillomania |
Make rs191284403(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 83878728 |
Gene | SLITRK1 |
is a | snp |
is | mentioned by |
dbSNP | rs191284403 |
dbSNP (classic) | rs191284403 |
ClinGen | rs191284403 |
ebi | rs191284403 |
HLI | rs191284403 |
Exac | rs191284403 |
Gnomad | rs191284403 |
Varsome | rs191284403 |
LitVar | rs191284403 |
Map | rs191284403 |
PheGenI | rs191284403 |
Biobank | rs191284403 |
1000 genomes | rs191284403 |
hgdp | rs191284403 |
ensembl | rs191284403 |
geneview | rs191284403 |
scholar | rs191284403 |
rs191284403 | |
pharmgkb | rs191284403 |
gwascentral | rs191284403 |
openSNP | rs191284403 |
23andMe | rs191284403 |
SNPshot | rs191284403 |
SNPdbe | rs191284403 |
MSV3d | rs191284403 |
GWAS Ctlg | rs191284403 |
GMAF | 0.0004591 |
Max Magnitude | 5 |
aka c.*689G>A
ClinVar | |
---|---|
Risk | rs191284403(T;T) |
Alt | rs191284403(T;T) |
Reference | Rs191284403(C;C) |
Significance | Pathogenic |
Disease | Tourette Syndrome |
Variation | info |
Gene | SLITRK1 |
CLNDBN | Tourette Syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.84452863C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001646.3, |