rs118192234
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs118192234(A;A) |
Make rs118192234(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 63413555 |
Gene | KCNQ2, LOC105372724 |
is a | snp |
is | mentioned by |
dbSNP | rs118192234 |
dbSNP (classic) | rs118192234 |
ClinGen | rs118192234 |
ebi | rs118192234 |
HLI | rs118192234 |
Exac | rs118192234 |
Gnomad | rs118192234 |
Varsome | rs118192234 |
LitVar | rs118192234 |
Map | rs118192234 |
PheGenI | rs118192234 |
Biobank | rs118192234 |
1000 genomes | rs118192234 |
hgdp | rs118192234 |
ensembl | rs118192234 |
geneview | rs118192234 |
scholar | rs118192234 |
rs118192234 | |
pharmgkb | rs118192234 |
gwascentral | rs118192234 |
openSNP | rs118192234 |
23andMe | rs118192234 |
SNPshot | rs118192234 |
SNPdbe | rs118192234 |
MSV3d | rs118192234 |
GWAS Ctlg | rs118192234 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118192234(A;A) rs118192234(T;T) |
Alt | rs118192234(A;A) rs118192234(T;T) |
Reference | Rs118192234(G;G) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy 7 not provided Benign familial neonatal seizures 1 |
Variation | info |
Gene | KCNQ2 |
CLNDBN | Early infantile epileptic encephalopathy 7 not provided Benign familial neonatal seizures 1 |
Reversed | 1 |
HGVS | NC_000020.10:g.62044908C>A; NC_000020.10:g.62044908C>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000408711.1, RCV000423974.1, RCV000020975.2, RCV000187913.2, |