rs773407463
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs773407463(A;G) |
Make rs773407463(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 166051936 |
Gene | SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs773407463 |
dbSNP (classic) | rs773407463 |
ClinGen | rs773407463 |
ebi | rs773407463 |
HLI | rs773407463 |
Exac | rs773407463 |
Gnomad | rs773407463 |
Varsome | rs773407463 |
LitVar | rs773407463 |
Map | rs773407463 |
PheGenI | rs773407463 |
Biobank | rs773407463 |
1000 genomes | rs773407463 |
hgdp | rs773407463 |
ensembl | rs773407463 |
geneview | rs773407463 |
scholar | rs773407463 |
rs773407463 | |
pharmgkb | rs773407463 |
gwascentral | rs773407463 |
openSNP | rs773407463 |
23andMe | rs773407463 |
SNPshot | rs773407463 |
SNPdbe | rs773407463 |
MSV3d | rs773407463 |
GWAS Ctlg | rs773407463 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs773407463(C;C) rs773407463(G;G) |
Alt | rs773407463(C;C) rs773407463(G;G) |
Reference | Rs773407463(A;A) |
Significance | Pathogenic |
Disease | Severe myoclonic epilepsy in infancy |
Variation | info |
Gene | SCN1A |
CLNDBN | Severe myoclonic epilepsy in infancy |
Reversed | 0 |
HGVS | NC_000002.11:g.166908446A>C |
CLNSRC | Peking University |
CLNACC | RCV000180938.1, |