rs587780369
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587780369(G;T) |
Make rs587780369(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 20 |
Position | 63406650 |
Gene | KCNQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs587780369 |
dbSNP (classic) | rs587780369 |
ClinGen | rs587780369 |
ebi | rs587780369 |
HLI | rs587780369 |
Exac | rs587780369 |
Gnomad | rs587780369 |
Varsome | rs587780369 |
LitVar | rs587780369 |
Map | rs587780369 |
PheGenI | rs587780369 |
Biobank | rs587780369 |
1000 genomes | rs587780369 |
hgdp | rs587780369 |
ensembl | rs587780369 |
geneview | rs587780369 |
scholar | rs587780369 |
rs587780369 | |
pharmgkb | rs587780369 |
gwascentral | rs587780369 |
openSNP | rs587780369 |
23andMe | rs587780369 |
SNPshot | rs587780369 |
SNPdbe | rs587780369 |
MSV3d | rs587780369 |
GWAS Ctlg | rs587780369 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587780369(T;T) |
Alt | rs587780369(T;T) |
Reference | Rs587780369(G;G) |
Significance | Pathogenic |
Disease | not specified Early infantile epileptic encephalopathy 7 Early infantile epileptic encephalopathy |
Variation | info |
Gene | KCNQ2 |
CLNDBN | not specified Early infantile epileptic encephalopathy 7 Early infantile epileptic encephalopathy |
Reversed | 1 |
HGVS | NC_000020.10:g.62038003C>A |
CLNSRC | |
CLNACC | RCV000117347.4, RCV000408670.1, RCV000461909.1, |