rs749240316
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs749240316(A;A) |
Make rs749240316(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 11026281 |
Gene | SLC6A1 |
is a | snp |
is | mentioned by |
dbSNP | rs749240316 |
dbSNP (classic) | rs749240316 |
ClinGen | rs749240316 |
ebi | rs749240316 |
HLI | rs749240316 |
Exac | rs749240316 |
Gnomad | rs749240316 |
Varsome | rs749240316 |
LitVar | rs749240316 |
Map | rs749240316 |
PheGenI | rs749240316 |
Biobank | rs749240316 |
1000 genomes | rs749240316 |
hgdp | rs749240316 |
ensembl | rs749240316 |
geneview | rs749240316 |
scholar | rs749240316 |
rs749240316 | |
pharmgkb | rs749240316 |
gwascentral | rs749240316 |
openSNP | rs749240316 |
23andMe | rs749240316 |
SNPshot | rs749240316 |
SNPdbe | rs749240316 |
MSV3d | rs749240316 |
GWAS Ctlg | rs749240316 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749240316(A;A) rs749240316(C;C) |
Alt | rs749240316(A;A) rs749240316(C;C) |
Reference | Rs749240316(G;G) |
Significance | Pathogenic |
Disease | Myoclonic-atonic epilepsy |
Variation | info |
Gene | SLC6A1 |
CLNDBN | Myoclonic-atonic epilepsy |
Reversed | 0 |
HGVS | NC_000003.11:g.11067967G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000172996.2, |