rs724159982
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs724159982(A;C) |
Make rs724159982(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 35033497 |
Gene | SCN1B |
is a | snp |
is | mentioned by |
dbSNP | rs724159982 |
dbSNP (classic) | rs724159982 |
ClinGen | rs724159982 |
ebi | rs724159982 |
HLI | rs724159982 |
Exac | rs724159982 |
Gnomad | rs724159982 |
Varsome | rs724159982 |
LitVar | rs724159982 |
Map | rs724159982 |
PheGenI | rs724159982 |
Biobank | rs724159982 |
1000 genomes | rs724159982 |
hgdp | rs724159982 |
ensembl | rs724159982 |
geneview | rs724159982 |
scholar | rs724159982 |
rs724159982 | |
pharmgkb | rs724159982 |
gwascentral | rs724159982 |
openSNP | rs724159982 |
23andMe | rs724159982 |
SNPshot | rs724159982 |
SNPdbe | rs724159982 |
MSV3d | rs724159982 |
GWAS Ctlg | rs724159982 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs724159982(C;C) |
Alt | rs724159982(C;C) |
Reference | Rs724159982(A;A) |
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.35524401A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009835.4, |