rs121917929
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121917929(C;T) |
Make rs121917929(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 166046970 |
Gene | SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs121917929 |
dbSNP (classic) | rs121917929 |
ClinGen | rs121917929 |
ebi | rs121917929 |
HLI | rs121917929 |
Exac | rs121917929 |
Gnomad | rs121917929 |
Varsome | rs121917929 |
LitVar | rs121917929 |
Map | rs121917929 |
PheGenI | rs121917929 |
Biobank | rs121917929 |
1000 genomes | rs121917929 |
hgdp | rs121917929 |
ensembl | rs121917929 |
geneview | rs121917929 |
scholar | rs121917929 |
rs121917929 | |
pharmgkb | rs121917929 |
gwascentral | rs121917929 |
openSNP | rs121917929 |
23andMe | rs121917929 |
SNPshot | rs121917929 |
SNPdbe | rs121917929 |
MSV3d | rs121917929 |
GWAS Ctlg | rs121917929 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917929(A;A) rs121917929(T;T) |
Alt | rs121917929(A;A) rs121917929(T;T) |
Reference | Rs121917929(C;C) |
Significance | Pathogenic |
Disease | Severe myoclonic epilepsy in infancy not provided Generalized epilepsy with febrile seizures plus |
Variation | info |
Gene | SCN1A |
CLNDBN | Severe myoclonic epilepsy in infancy not provided Generalized epilepsy with febrile seizures plus, type 2 |
Reversed | 1 |
HGVS | NC_000002.11:g.166903480G>A; NC_000002.11:g.166903480G>T |
CLNSRC | UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000059377.2, RCV000188854.2, RCV000391049.1, RCV000059376.1, |