rs864309546
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs864309546(-;A) |
Make rs864309546(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 93002212 |
Gene | CHD2 |
is a | snp |
is | mentioned by |
dbSNP | rs864309546 |
dbSNP (classic) | rs864309546 |
ClinGen | rs864309546 |
ebi | rs864309546 |
HLI | rs864309546 |
Exac | rs864309546 |
Gnomad | rs864309546 |
Varsome | rs864309546 |
LitVar | rs864309546 |
Map | rs864309546 |
PheGenI | rs864309546 |
Biobank | rs864309546 |
1000 genomes | rs864309546 |
hgdp | rs864309546 |
ensembl | rs864309546 |
geneview | rs864309546 |
scholar | rs864309546 |
rs864309546 | |
pharmgkb | rs864309546 |
gwascentral | rs864309546 |
openSNP | rs864309546 |
23andMe | rs864309546 |
SNPshot | rs864309546 |
SNPdbe | rs864309546 |
MSV3d | rs864309546 |
GWAS Ctlg | rs864309546 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309546(A;A) |
Alt | rs864309546(A;A) |
Reference | Rs864309546(-;-) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy not provided |
Variation | info |
Gene | CHD2 |
CLNDBN | Epileptic encephalopathy, childhood-onset not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.93545442dupA |
CLNSRC | |
CLNACC | RCV000202632.1, RCV000332337.1, |