rs886044141
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AA) | 8 | Early infantile epileptic encephalopathy, type 4 |
(AA;AA) | 0 | common in clinvar |
Make rs886044141(-;-) |
Chromosome | 9 |
Position | 127661176 |
Gene | STXBP1 |
is a | snp |
is | mentioned by |
dbSNP | rs886044141 |
dbSNP (classic) | rs886044141 |
ClinGen | rs886044141 |
ebi | rs886044141 |
HLI | rs886044141 |
Exac | rs886044141 |
Gnomad | rs886044141 |
Varsome | rs886044141 |
LitVar | rs886044141 |
Map | rs886044141 |
PheGenI | rs886044141 |
Biobank | rs886044141 |
1000 genomes | rs886044141 |
hgdp | rs886044141 |
ensembl | rs886044141 |
geneview | rs886044141 |
scholar | rs886044141 |
rs886044141 | |
pharmgkb | rs886044141 |
gwascentral | rs886044141 |
openSNP | rs886044141 |
23andMe | rs886044141 |
SNPshot | rs886044141 |
SNPdbe | rs886044141 |
MSV3d | rs886044141 |
GWAS Ctlg | rs886044141 |
Max Magnitude | 8 |
ClinVar | |
---|---|
Risk | rs886044141(-;-) |
Alt | rs886044141(-;-) |
Reference | Rs886044141(AA;AA) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy 4 |
Variation | info |
Gene | STXBP1 |
CLNDBN | Early infantile epileptic encephalopathy 4 |
Reversed | 0 |
HGVS | NC_000009.11:g.130423455_130423456delAA |
CLNSRC | |
CLNACC | RCV000352406.1, |