rs864309543
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAAG;AAAG) | 0 | common in clinvar |
(AGAA;AGAA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs864309543(-;-) |
Make rs864309543(-;AGAA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 93002272 |
Gene | CHD2 |
is a | snp |
is | mentioned by |
dbSNP | rs864309543 |
dbSNP (classic) | rs864309543 |
ClinGen | rs864309543 |
ebi | rs864309543 |
HLI | rs864309543 |
Exac | rs864309543 |
Gnomad | rs864309543 |
Varsome | rs864309543 |
LitVar | rs864309543 |
Map | rs864309543 |
PheGenI | rs864309543 |
Biobank | rs864309543 |
1000 genomes | rs864309543 |
hgdp | rs864309543 |
ensembl | rs864309543 |
geneview | rs864309543 |
scholar | rs864309543 |
rs864309543 | |
pharmgkb | rs864309543 |
gwascentral | rs864309543 |
openSNP | rs864309543 |
23andMe | rs864309543 |
SNPshot | rs864309543 |
SNPdbe | rs864309543 |
MSV3d | rs864309543 |
GWAS Ctlg | rs864309543 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309543(-;-) Rs864309543(AAAG;AAAG) |
Alt | rs864309543(-;-) Rs864309543(AAAG;AAAG) |
Reference | Rs864309543(AGAA;AGAA) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | CHD2 |
CLNDBN | Epileptic encephalopathy, childhood-onset |
Reversed | 0 |
HGVS | NC_000015.9:g.93545502_93545505delAGAA |
CLNSRC | |
CLNACC | RCV000202630.1, |