rs878855236
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in clinvar |
Make rs878855236(-;-) |
Make rs878855236(-;TG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 63415039 |
Gene | KCNQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs878855236 |
dbSNP (classic) | rs878855236 |
ClinGen | rs878855236 |
ebi | rs878855236 |
HLI | rs878855236 |
Exac | rs878855236 |
Gnomad | rs878855236 |
Varsome | rs878855236 |
LitVar | rs878855236 |
Map | rs878855236 |
PheGenI | rs878855236 |
Biobank | rs878855236 |
1000 genomes | rs878855236 |
hgdp | rs878855236 |
ensembl | rs878855236 |
geneview | rs878855236 |
scholar | rs878855236 |
rs878855236 | |
pharmgkb | rs878855236 |
gwascentral | rs878855236 |
openSNP | rs878855236 |
23andMe | rs878855236 |
SNPshot | rs878855236 |
SNPdbe | rs878855236 |
MSV3d | rs878855236 |
GWAS Ctlg | rs878855236 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878855236(-;-) |
Alt | rs878855236(-;-) |
Reference | Rs878855236(TG;TG) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy |
Variation | info |
Gene | KCNQ2 |
CLNDBN | Early infantile epileptic encephalopathy |
Reversed | 1 |
HGVS | NC_000020.10:g.62046392_62046393delCA |
CLNSRC | |
CLNACC | RCV000227131.1, |