rs864309537
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs864309537(C;C) |
Make rs864309537(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 92953496 |
Gene | CHD2 |
is a | snp |
is | mentioned by |
dbSNP | rs864309537 |
dbSNP (classic) | rs864309537 |
ClinGen | rs864309537 |
ebi | rs864309537 |
HLI | rs864309537 |
Exac | rs864309537 |
Gnomad | rs864309537 |
Varsome | rs864309537 |
LitVar | rs864309537 |
Map | rs864309537 |
PheGenI | rs864309537 |
Biobank | rs864309537 |
1000 genomes | rs864309537 |
hgdp | rs864309537 |
ensembl | rs864309537 |
geneview | rs864309537 |
scholar | rs864309537 |
rs864309537 | |
pharmgkb | rs864309537 |
gwascentral | rs864309537 |
openSNP | rs864309537 |
23andMe | rs864309537 |
SNPshot | rs864309537 |
SNPdbe | rs864309537 |
MSV3d | rs864309537 |
GWAS Ctlg | rs864309537 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309537(C;C) |
Alt | rs864309537(C;C) |
Reference | Rs864309537(T;T) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | CHD2 |
CLNDBN | Epileptic encephalopathy, childhood-onset |
Reversed | 0 |
HGVS | NC_000015.9:g.93496726T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000202643.1, |