rs869312682
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs869312682(C;T) |
Make rs869312682(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 135714602 |
Gene | KCNT1, LOC105376320 |
is a | snp |
is | mentioned by |
dbSNP | rs869312682 |
dbSNP (classic) | rs869312682 |
ClinGen | rs869312682 |
ebi | rs869312682 |
HLI | rs869312682 |
Exac | rs869312682 |
Gnomad | rs869312682 |
Varsome | rs869312682 |
LitVar | rs869312682 |
Map | rs869312682 |
PheGenI | rs869312682 |
Biobank | rs869312682 |
1000 genomes | rs869312682 |
hgdp | rs869312682 |
ensembl | rs869312682 |
geneview | rs869312682 |
scholar | rs869312682 |
rs869312682 | |
pharmgkb | rs869312682 |
gwascentral | rs869312682 |
openSNP | rs869312682 |
23andMe | rs869312682 |
SNPshot | rs869312682 |
SNPdbe | rs869312682 |
MSV3d | rs869312682 |
GWAS Ctlg | rs869312682 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312682(T;T) |
Alt | rs869312682(T;T) |
Reference | Rs869312682(C;C) |
Significance | Probable-Pathogenic |
Disease | Early infantile epileptic encephalopathy 14 |
Variation | info |
Gene | KCNT1 |
CLNDBN | Early infantile epileptic encephalopathy 14 |
Reversed | 0 |
HGVS | NC_000009.11:g.138606448C>T |
CLNSRC | |
CLNACC | RCV000209840.1, |