rs397515402
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397515402(A;A) |
Make rs397515402(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 135765706 |
Gene | KCNT1 |
is a | snp |
is | mentioned by |
dbSNP | rs397515402 |
dbSNP (classic) | rs397515402 |
ClinGen | rs397515402 |
ebi | rs397515402 |
HLI | rs397515402 |
Exac | rs397515402 |
Gnomad | rs397515402 |
Varsome | rs397515402 |
LitVar | rs397515402 |
Map | rs397515402 |
PheGenI | rs397515402 |
Biobank | rs397515402 |
1000 genomes | rs397515402 |
hgdp | rs397515402 |
ensembl | rs397515402 |
geneview | rs397515402 |
scholar | rs397515402 |
rs397515402 | |
pharmgkb | rs397515402 |
gwascentral | rs397515402 |
openSNP | rs397515402 |
23andMe | rs397515402 |
SNPshot | rs397515402 |
SNPdbe | rs397515402 |
MSV3d | rs397515402 |
GWAS Ctlg | rs397515402 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515402(A;A) |
Alt | rs397515402(A;A) |
Reference | Rs397515402(G;G) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy 14 Epilepsy not provided |
Variation | info |
Gene | KCNT1 |
CLNDBN | Early infantile epileptic encephalopathy 14 Epilepsy, nocturnal frontal lobe, 5 not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.138657552G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032793.4, RCV000117358.1, RCV000413614.1, |