rs796052615
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs796052615(A;G) |
Make rs796052615(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 63446839 |
Gene | KCNQ2, LOC105372720 |
is a | snp |
is | mentioned by |
dbSNP | rs796052615 |
dbSNP (classic) | rs796052615 |
ClinGen | rs796052615 |
ebi | rs796052615 |
HLI | rs796052615 |
Exac | rs796052615 |
Gnomad | rs796052615 |
Varsome | rs796052615 |
LitVar | rs796052615 |
Map | rs796052615 |
PheGenI | rs796052615 |
Biobank | rs796052615 |
1000 genomes | rs796052615 |
hgdp | rs796052615 |
ensembl | rs796052615 |
geneview | rs796052615 |
scholar | rs796052615 |
rs796052615 | |
pharmgkb | rs796052615 |
gwascentral | rs796052615 |
openSNP | rs796052615 |
23andMe | rs796052615 |
SNPshot | rs796052615 |
SNPdbe | rs796052615 |
MSV3d | rs796052615 |
GWAS Ctlg | rs796052615 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796052615(G;G) |
Alt | rs796052615(G;G) |
Reference | Rs796052615(A;A) |
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.62078192T>C |
CLNSRC | |
CLNACC | RCV000187849.1, RCV000408714.1, |