rs876657389
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs876657389(C;T) |
Make rs876657389(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 110603569 |
Gene | KCNA2 |
is a | snp |
is | mentioned by |
dbSNP | rs876657389 |
dbSNP (classic) | rs876657389 |
ClinGen | rs876657389 |
ebi | rs876657389 |
HLI | rs876657389 |
Exac | rs876657389 |
Gnomad | rs876657389 |
Varsome | rs876657389 |
LitVar | rs876657389 |
Map | rs876657389 |
PheGenI | rs876657389 |
Biobank | rs876657389 |
1000 genomes | rs876657389 |
hgdp | rs876657389 |
ensembl | rs876657389 |
geneview | rs876657389 |
scholar | rs876657389 |
rs876657389 | |
pharmgkb | rs876657389 |
gwascentral | rs876657389 |
openSNP | rs876657389 |
23andMe | rs876657389 |
SNPshot | rs876657389 |
SNPdbe | rs876657389 |
MSV3d | rs876657389 |
GWAS Ctlg | rs876657389 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876657389(T;T) |
Alt | rs876657389(T;T) |
Reference | Rs876657389(C;C) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy not provided |
Variation | info |
Gene | KCNA2 |
CLNDBN | Epileptic encephalopathy, early infantile, 32 not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.111146191G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000170511.3, RCV000407449.1, |