rs587783405
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587783405(C;T) |
Make rs587783405(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 18588021 |
Gene | CDKL5 |
is a | snp |
is | mentioned by |
dbSNP | rs587783405 |
dbSNP (classic) | rs587783405 |
ClinGen | rs587783405 |
ebi | rs587783405 |
HLI | rs587783405 |
Exac | rs587783405 |
Gnomad | rs587783405 |
Varsome | rs587783405 |
LitVar | rs587783405 |
Map | rs587783405 |
PheGenI | rs587783405 |
Biobank | rs587783405 |
1000 genomes | rs587783405 |
hgdp | rs587783405 |
ensembl | rs587783405 |
geneview | rs587783405 |
scholar | rs587783405 |
rs587783405 | |
pharmgkb | rs587783405 |
gwascentral | rs587783405 |
openSNP | rs587783405 |
23andMe | rs587783405 |
SNPshot | rs587783405 |
SNPdbe | rs587783405 |
MSV3d | rs587783405 |
GWAS Ctlg | rs587783405 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783405(T;T) |
Alt | rs587783405(T;T) |
Reference | Rs587783405(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.18606141C>T |
CLNSRC | |
CLNACC | RCV000145545.1, |