rs869312877
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs869312877(-;G) |
Make rs869312877(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 15 |
Position | 92997305 |
Gene | CHD2 |
is a | snp |
is | mentioned by |
dbSNP | rs869312877 |
dbSNP (classic) | rs869312877 |
ClinGen | rs869312877 |
ebi | rs869312877 |
HLI | rs869312877 |
Exac | rs869312877 |
Gnomad | rs869312877 |
Varsome | rs869312877 |
LitVar | rs869312877 |
Map | rs869312877 |
PheGenI | rs869312877 |
Biobank | rs869312877 |
1000 genomes | rs869312877 |
hgdp | rs869312877 |
ensembl | rs869312877 |
geneview | rs869312877 |
scholar | rs869312877 |
rs869312877 | |
pharmgkb | rs869312877 |
gwascentral | rs869312877 |
openSNP | rs869312877 |
23andMe | rs869312877 |
SNPshot | rs869312877 |
SNPdbe | rs869312877 |
MSV3d | rs869312877 |
GWAS Ctlg | rs869312877 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312877(G;G) |
Alt | rs869312877(G;G) |
Reference | Rs869312877(-;-) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | CHD2 |
CLNDBN | Epileptic encephalopathy, childhood-onset |
Reversed | 0 |
HGVS | NC_000015.9:g.93540535dupG |
CLNSRC | |
CLNACC | RCV000209909.1, |