rs751170778
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 8 | Early infantile epileptic encephalopathy, type 4 |
(T;T) | 0 | common in clinvar |
Make rs751170778(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 127668083 |
Gene | STXBP1 |
is a | snp |
is | mentioned by |
dbSNP | rs751170778 |
dbSNP (classic) | rs751170778 |
ClinGen | rs751170778 |
ebi | rs751170778 |
HLI | rs751170778 |
Exac | rs751170778 |
Gnomad | rs751170778 |
Varsome | rs751170778 |
LitVar | rs751170778 |
Map | rs751170778 |
PheGenI | rs751170778 |
Biobank | rs751170778 |
1000 genomes | rs751170778 |
hgdp | rs751170778 |
ensembl | rs751170778 |
geneview | rs751170778 |
scholar | rs751170778 |
rs751170778 | |
pharmgkb | rs751170778 |
gwascentral | rs751170778 |
openSNP | rs751170778 |
23andMe | rs751170778 |
SNPshot | rs751170778 |
SNPdbe | rs751170778 |
MSV3d | rs751170778 |
GWAS Ctlg | rs751170778 |
Max Magnitude | 8 |
ClinVar | |
---|---|
Risk | rs751170778(C;C) rs751170778(G;G) |
Alt | rs751170778(C;C) rs751170778(G;G) |
Reference | Rs751170778(T;T) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy |
Variation | info |
Gene | STXBP1 |
CLNDBN | Early infantile epileptic encephalopathy |
Reversed | 0 |
HGVS | NC_000009.11:g.130430362T>G |
CLNSRC | |
CLNACC | RCV000232712.1, |