rs796052650
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs796052650(C;T) |
Make rs796052650(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 63413574 |
Gene | KCNQ2, LOC105372724 |
is a | snp |
is | mentioned by |
dbSNP | rs796052650 |
dbSNP (classic) | rs796052650 |
ClinGen | rs796052650 |
ebi | rs796052650 |
HLI | rs796052650 |
Exac | rs796052650 |
Gnomad | rs796052650 |
Varsome | rs796052650 |
LitVar | rs796052650 |
Map | rs796052650 |
PheGenI | rs796052650 |
Biobank | rs796052650 |
1000 genomes | rs796052650 |
hgdp | rs796052650 |
ensembl | rs796052650 |
geneview | rs796052650 |
scholar | rs796052650 |
rs796052650 | |
pharmgkb | rs796052650 |
gwascentral | rs796052650 |
openSNP | rs796052650 |
23andMe | rs796052650 |
SNPshot | rs796052650 |
SNPdbe | rs796052650 |
MSV3d | rs796052650 |
GWAS Ctlg | rs796052650 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796052650(G;G) rs796052650(T;T) |
Alt | rs796052650(G;G) rs796052650(T;T) |
Reference | Rs796052650(C;C) |
Significance | Pathogenic |
Disease | not provided Benign familial neonatal seizures 1 |
Variation | info |
Gene | KCNQ2 |
CLNDBN | not provided Benign familial neonatal seizures 1 |
Reversed | 1 |
HGVS | NC_000020.10:g.62044927G>A; NC_000020.10:g.62044927G>C |
CLNSRC | University Hospital of Geneva |
CLNACC | RCV000187911.2, RCV000408736.1, RCV000211481.1, |