rs794726860
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794726860(C;T) |
Make rs794726860(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 11025786 |
Gene | SLC6A1 |
is a | snp |
is | mentioned by |
dbSNP | rs794726860 |
dbSNP (classic) | rs794726860 |
ClinGen | rs794726860 |
ebi | rs794726860 |
HLI | rs794726860 |
Exac | rs794726860 |
Gnomad | rs794726860 |
Varsome | rs794726860 |
LitVar | rs794726860 |
Map | rs794726860 |
PheGenI | rs794726860 |
Biobank | rs794726860 |
1000 genomes | rs794726860 |
hgdp | rs794726860 |
ensembl | rs794726860 |
geneview | rs794726860 |
scholar | rs794726860 |
rs794726860 | |
pharmgkb | rs794726860 |
gwascentral | rs794726860 |
openSNP | rs794726860 |
23andMe | rs794726860 |
SNPshot | rs794726860 |
SNPdbe | rs794726860 |
MSV3d | rs794726860 |
GWAS Ctlg | rs794726860 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794726860(T;T) |
Alt | rs794726860(T;T) |
Reference | Rs794726860(C;C) |
Significance | Pathogenic |
Disease | Myoclonic-atonic epilepsy not provided |
Variation | info |
Gene | SLC6A1 |
CLNDBN | Myoclonic-atonic epilepsy not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.11067472C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000172998.2, RCV000414233.1, |