rs104894718
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894718(C;G) |
Make rs104894718(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 35033654 |
Gene | SCN1B |
is a | snp |
is | mentioned by |
dbSNP | rs104894718 |
dbSNP (classic) | rs104894718 |
ClinGen | rs104894718 |
ebi | rs104894718 |
HLI | rs104894718 |
Exac | rs104894718 |
Gnomad | rs104894718 |
Varsome | rs104894718 |
LitVar | rs104894718 |
Map | rs104894718 |
PheGenI | rs104894718 |
Biobank | rs104894718 |
1000 genomes | rs104894718 |
hgdp | rs104894718 |
ensembl | rs104894718 |
geneview | rs104894718 |
scholar | rs104894718 |
rs104894718 | |
pharmgkb | rs104894718 |
gwascentral | rs104894718 |
openSNP | rs104894718 |
23andMe | rs104894718 |
SNPshot | rs104894718 |
SNPdbe | rs104894718 |
MSV3d | rs104894718 |
GWAS Ctlg | rs104894718 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894718(G;G) rs104894718(T;T) |
Alt | rs104894718(G;G) rs104894718(T;T) |
Reference | Rs104894718(C;C) |
Significance | Pathogenic |
Disease | Generalized epilepsy with febrile seizures plus Generalized epilepsy with febrile seizures plus not provided Atrial fibrillation |
Variation | info |
Gene | SCN1B |
CLNDBN | Generalized epilepsy with febrile seizures plus, type 1 Generalized epilepsy with febrile seizures plus not provided Atrial fibrillation, familial, 13 |
Reversed | 0 |
HGVS | NC_000019.9:g.35524558C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009834.7, RCV000030434.1, RCV000171041.4, RCV000184010.1, |