rs121917964
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121917964(A;G) |
Make rs121917964(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 166073371 |
Gene | SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs121917964 |
dbSNP (classic) | rs121917964 |
ClinGen | rs121917964 |
ebi | rs121917964 |
HLI | rs121917964 |
Exac | rs121917964 |
Gnomad | rs121917964 |
Varsome | rs121917964 |
LitVar | rs121917964 |
Map | rs121917964 |
PheGenI | rs121917964 |
Biobank | rs121917964 |
1000 genomes | rs121917964 |
hgdp | rs121917964 |
ensembl | rs121917964 |
geneview | rs121917964 |
scholar | rs121917964 |
rs121917964 | |
pharmgkb | rs121917964 |
gwascentral | rs121917964 |
openSNP | rs121917964 |
23andMe | rs121917964 |
SNPshot | rs121917964 |
SNPdbe | rs121917964 |
MSV3d | rs121917964 |
GWAS Ctlg | rs121917964 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917964(G;G) |
Alt | rs121917964(G;G) |
Reference | Rs121917964(A;A) |
Significance | Pathogenic |
Disease | Severe myoclonic epilepsy in infancy not provided |
Variation | info |
Gene | SCN1A |
CLNDBN | Severe myoclonic epilepsy in infancy not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.166929881T>C |
CLNSRC | UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000059392.1, RCV000255485.1, |