rs121917955
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121917955(C;G) |
Make rs121917955(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 165992307 |
Gene | LOC102724058, SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs121917955 |
dbSNP (classic) | rs121917955 |
ClinGen | rs121917955 |
ebi | rs121917955 |
HLI | rs121917955 |
Exac | rs121917955 |
Gnomad | rs121917955 |
Varsome | rs121917955 |
LitVar | rs121917955 |
Map | rs121917955 |
PheGenI | rs121917955 |
Biobank | rs121917955 |
1000 genomes | rs121917955 |
hgdp | rs121917955 |
ensembl | rs121917955 |
geneview | rs121917955 |
scholar | rs121917955 |
rs121917955 | |
pharmgkb | rs121917955 |
gwascentral | rs121917955 |
openSNP | rs121917955 |
23andMe | rs121917955 |
SNPshot | rs121917955 |
SNPdbe | rs121917955 |
MSV3d | rs121917955 |
GWAS Ctlg | rs121917955 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917955(G;G) |
Alt | rs121917955(G;G) |
Reference | Rs121917955(C;C) |
Significance | Pathogenic |
Disease | Generalized epilepsy with febrile seizures plus Generalized epilepsy with febrile seizures plus |
Variation | info |
Gene | LOC102724058 SCN1A |
CLNDBN | Generalized epilepsy with febrile seizures plus, type 2 Generalized epilepsy with febrile seizures plus, type 1 |
Reversed | 1 |
HGVS | NC_000002.11:g.166848817G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (variants) |
CLNACC | RCV000013746.17, RCV000059433.1, |
[PMID 11254444] Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.