rs794727487
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794727487(-;-) |
Make rs794727487(-;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 35033638 |
Gene | SCN1B |
is a | snp |
is | mentioned by |
dbSNP | rs794727487 |
dbSNP (classic) | rs794727487 |
ClinGen | rs794727487 |
ebi | rs794727487 |
HLI | rs794727487 |
Exac | rs794727487 |
Gnomad | rs794727487 |
Varsome | rs794727487 |
LitVar | rs794727487 |
Map | rs794727487 |
PheGenI | rs794727487 |
Biobank | rs794727487 |
1000 genomes | rs794727487 |
hgdp | rs794727487 |
ensembl | rs794727487 |
geneview | rs794727487 |
scholar | rs794727487 |
rs794727487 | |
pharmgkb | rs794727487 |
gwascentral | rs794727487 |
openSNP | rs794727487 |
23andMe | rs794727487 |
SNPshot | rs794727487 |
SNPdbe | rs794727487 |
MSV3d | rs794727487 |
GWAS Ctlg | rs794727487 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727487(-;-) |
Alt | rs794727487(-;-) |
Reference | Rs794727487(C;C) |
Significance | Pathogenic |
Disease | Generalized epilepsy with febrile seizures plus |
Variation | info |
Gene | SCN1B |
CLNDBN | Generalized epilepsy with febrile seizures plus, type 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.35524542delC |
CLNSRC | |
CLNACC | RCV000177106.1, |