rs761336234
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs761336234(C;T) |
Make rs761336234(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 12 |
Position | 51706668 |
Gene | SCN8A |
is a | snp |
is | mentioned by |
dbSNP | rs761336234 |
dbSNP (classic) | rs761336234 |
ClinGen | rs761336234 |
ebi | rs761336234 |
HLI | rs761336234 |
Exac | rs761336234 |
Gnomad | rs761336234 |
Varsome | rs761336234 |
LitVar | rs761336234 |
Map | rs761336234 |
PheGenI | rs761336234 |
Biobank | rs761336234 |
1000 genomes | rs761336234 |
hgdp | rs761336234 |
ensembl | rs761336234 |
geneview | rs761336234 |
scholar | rs761336234 |
rs761336234 | |
pharmgkb | rs761336234 |
gwascentral | rs761336234 |
openSNP | rs761336234 |
23andMe | rs761336234 |
SNPshot | rs761336234 |
SNPdbe | rs761336234 |
MSV3d | rs761336234 |
GWAS Ctlg | rs761336234 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs761336234(T;T) |
Alt | rs761336234(T;T) |
Reference | Rs761336234(C;C) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy 13 |
Variation | info |
Gene | SCN8A |
CLNDBN | Early infantile epileptic encephalopathy 13 |
Reversed | 0 |
HGVS | NC_000012.11:g.52100452C>T |
CLNSRC | |
CLNACC | RCV000239743.1, |