rs864309538
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs864309538(-;-) |
Make rs864309538(-;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 92955511 |
Gene | CHD2 |
is a | snp |
is | mentioned by |
dbSNP | rs864309538 |
dbSNP (classic) | rs864309538 |
ClinGen | rs864309538 |
ebi | rs864309538 |
HLI | rs864309538 |
Exac | rs864309538 |
Gnomad | rs864309538 |
Varsome | rs864309538 |
LitVar | rs864309538 |
Map | rs864309538 |
PheGenI | rs864309538 |
Biobank | rs864309538 |
1000 genomes | rs864309538 |
hgdp | rs864309538 |
ensembl | rs864309538 |
geneview | rs864309538 |
scholar | rs864309538 |
rs864309538 | |
pharmgkb | rs864309538 |
gwascentral | rs864309538 |
openSNP | rs864309538 |
23andMe | rs864309538 |
SNPshot | rs864309538 |
SNPdbe | rs864309538 |
MSV3d | rs864309538 |
GWAS Ctlg | rs864309538 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309538(-;-) |
Alt | rs864309538(-;-) |
Reference | Rs864309538(A;A) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | CHD2 |
CLNDBN | Epileptic encephalopathy, childhood-onset |
Reversed | 0 |
HGVS | NC_000015.9:g.93498741delA |
CLNSRC | |
CLNACC | RCV000202628.1, |