rs886044717
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Chromosome | 9 |
Position | 135779423 |
Gene | KCNT1 |
is a | snp |
is | mentioned by |
dbSNP | rs886044717 |
dbSNP (classic) | rs886044717 |
ClinGen | rs886044717 |
ebi | rs886044717 |
HLI | rs886044717 |
Exac | rs886044717 |
Gnomad | rs886044717 |
Varsome | rs886044717 |
LitVar | rs886044717 |
Map | rs886044717 |
PheGenI | rs886044717 |
Biobank | rs886044717 |
1000 genomes | rs886044717 |
hgdp | rs886044717 |
ensembl | rs886044717 |
geneview | rs886044717 |
scholar | rs886044717 |
rs886044717 | |
pharmgkb | rs886044717 |
gwascentral | rs886044717 |
openSNP | rs886044717 |
23andMe | rs886044717 |
SNPshot | rs886044717 |
SNPdbe | rs886044717 |
MSV3d | rs886044717 |
GWAS Ctlg | rs886044717 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886044717(A;A) |
Alt | rs886044717(A;A) |
Reference | Rs886044717(T;T) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy 14 |
Variation | info |
Gene | KCNT1 |
CLNDBN | Early infantile epileptic encephalopathy 14 |
Reversed | 0 |
HGVS | NC_000009.11:g.138671269T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000077799.3, |