rs886042605
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Chromosome | 20 |
Position | 63433807 |
Gene | KCNQ2, LOC105372721 |
is a | snp |
is | mentioned by |
dbSNP | rs886042605 |
dbSNP (classic) | rs886042605 |
ClinGen | rs886042605 |
ebi | rs886042605 |
HLI | rs886042605 |
Exac | rs886042605 |
Gnomad | rs886042605 |
Varsome | rs886042605 |
LitVar | rs886042605 |
Map | rs886042605 |
PheGenI | rs886042605 |
Biobank | rs886042605 |
1000 genomes | rs886042605 |
hgdp | rs886042605 |
ensembl | rs886042605 |
geneview | rs886042605 |
scholar | rs886042605 |
rs886042605 | |
pharmgkb | rs886042605 |
gwascentral | rs886042605 |
openSNP | rs886042605 |
23andMe | rs886042605 |
SNPshot | rs886042605 |
SNPdbe | rs886042605 |
MSV3d | rs886042605 |
GWAS Ctlg | rs886042605 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886042605(G;G) |
Alt | rs886042605(G;G) |
Reference | Rs886042605(A;A) |
Significance | Pathogenic |
Disease | Benign familial neonatal seizures 1 Early infantile epileptic encephalopathy 7 |
Variation | info |
Gene | KCNQ2 |
CLNDBN | Benign familial neonatal seizures 1 Early infantile epileptic encephalopathy 7 |
Reversed | 0 |
HGVS | NC_000020.10:g.62065160A>G |
CLNSRC | |
CLNACC | RCV000275668.1, RCV000311494.1, |