rs794727786
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794727786(-;-) |
Make rs794727786(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 166051853 |
Gene | SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs794727786 |
dbSNP (classic) | rs794727786 |
ClinGen | rs794727786 |
ebi | rs794727786 |
HLI | rs794727786 |
Exac | rs794727786 |
Gnomad | rs794727786 |
Varsome | rs794727786 |
LitVar | rs794727786 |
Map | rs794727786 |
PheGenI | rs794727786 |
Biobank | rs794727786 |
1000 genomes | rs794727786 |
hgdp | rs794727786 |
ensembl | rs794727786 |
geneview | rs794727786 |
scholar | rs794727786 |
rs794727786 | |
pharmgkb | rs794727786 |
gwascentral | rs794727786 |
openSNP | rs794727786 |
23andMe | rs794727786 |
SNPshot | rs794727786 |
SNPdbe | rs794727786 |
MSV3d | rs794727786 |
GWAS Ctlg | rs794727786 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727786(-;-) |
Alt | rs794727786(-;-) |
Reference | Rs794727786(G;G) |
Significance | Pathogenic |
Disease | Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy |
Variation | info |
Gene | SCN1A |
CLNDBN | Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy |
Reversed | 1 |
HGVS | NC_000002.11:g.166908363delC |
CLNSRC | |
CLNACC | RCV000179375.1, RCV000283533.1, |