rs863225289
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs863225289(C;T) |
Make rs863225289(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 18628590 |
Gene | CDKL5 |
is a | snp |
is | mentioned by |
dbSNP | rs863225289 |
dbSNP (classic) | rs863225289 |
ClinGen | rs863225289 |
ebi | rs863225289 |
HLI | rs863225289 |
Exac | rs863225289 |
Gnomad | rs863225289 |
Varsome | rs863225289 |
LitVar | rs863225289 |
Map | rs863225289 |
PheGenI | rs863225289 |
Biobank | rs863225289 |
1000 genomes | rs863225289 |
hgdp | rs863225289 |
ensembl | rs863225289 |
geneview | rs863225289 |
scholar | rs863225289 |
rs863225289 | |
pharmgkb | rs863225289 |
gwascentral | rs863225289 |
openSNP | rs863225289 |
23andMe | rs863225289 |
SNPshot | rs863225289 |
SNPdbe | rs863225289 |
MSV3d | rs863225289 |
GWAS Ctlg | rs863225289 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225289(T;T) |
Alt | rs863225289(T;T) |
Reference | Rs863225289(C;C) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy 2 |
Variation | info |
Gene | CDKL5 |
CLNDBN | Early infantile epileptic encephalopathy 2 |
Reversed | 0 |
HGVS | NC_000023.10:g.18646710C>T |
CLNSRC | |
CLNACC | RCV000201936.1, |