rs876657401
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GG;GG) | 0 | common in clinvar |
Make rs876657401(-;-) |
Make rs876657401(-;GG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 11031222 |
Gene | SLC6A1 |
is a | snp |
is | mentioned by |
dbSNP | rs876657401 |
dbSNP (classic) | rs876657401 |
ClinGen | rs876657401 |
ebi | rs876657401 |
HLI | rs876657401 |
Exac | rs876657401 |
Gnomad | rs876657401 |
Varsome | rs876657401 |
LitVar | rs876657401 |
Map | rs876657401 |
PheGenI | rs876657401 |
Biobank | rs876657401 |
1000 genomes | rs876657401 |
hgdp | rs876657401 |
ensembl | rs876657401 |
geneview | rs876657401 |
scholar | rs876657401 |
rs876657401 | |
pharmgkb | rs876657401 |
gwascentral | rs876657401 |
openSNP | rs876657401 |
23andMe | rs876657401 |
SNPshot | rs876657401 |
SNPdbe | rs876657401 |
MSV3d | rs876657401 |
GWAS Ctlg | rs876657401 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876657401(-;-) |
Alt | rs876657401(-;-) |
Reference | Rs876657401(GG;GG) |
Significance | Pathogenic |
Disease | Myoclonic-atonic epilepsy |
Variation | info |
Gene | SLC6A1 |
CLNDBN | Myoclonic-atonic epilepsy |
Reversed | 0 |
HGVS | NC_000003.11:g.11072908_11072909delGG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000172997.2, |