rs1443548
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1443548(C;C) |
Make rs1443548(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 20601496 |
Gene | SLC6A5 |
is a | snp |
is | mentioned by |
dbSNP | rs1443548 |
dbSNP (classic) | rs1443548 |
ClinGen | rs1443548 |
ebi | rs1443548 |
HLI | rs1443548 |
Exac | rs1443548 |
Gnomad | rs1443548 |
Varsome | rs1443548 |
LitVar | rs1443548 |
Map | rs1443548 |
PheGenI | rs1443548 |
Biobank | rs1443548 |
1000 genomes | rs1443548 |
hgdp | rs1443548 |
ensembl | rs1443548 |
geneview | rs1443548 |
scholar | rs1443548 |
rs1443548 | |
pharmgkb | rs1443548 |
gwascentral | rs1443548 |
openSNP | rs1443548 |
23andMe | rs1443548 |
SNPshot | rs1443548 |
SNPdbe | rs1443548 |
MSV3d | rs1443548 |
GWAS Ctlg | rs1443548 |
GMAF | 0.2107 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 20859245] Glutamatergic gene variants impact the clinical profile of efficacy and side effects of haloperidol
ClinVar | |
---|---|
Risk | rs1443548(C;C) |
Alt | rs1443548(C;C) |
Reference | Rs1443548(T;T) |
Significance | Non-pathogenic |
Disease | Hyperekplexia |
Variation | info |
Gene | SLC6A5 |
CLNDBN | Hyperekplexia |
Reversed | 0 |
HGVS | NC_000011.9:g.20623042T>C |
CLNSRC | |
CLNACC | RCV000365666.1, |