rs62643608
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs62643608(-;-) |
Make rs62643608(-;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 18575391 |
Gene | CDKL5 |
is a | snp |
is | mentioned by |
dbSNP | rs62643608 |
dbSNP (classic) | rs62643608 |
ClinGen | rs62643608 |
ebi | rs62643608 |
HLI | rs62643608 |
Exac | rs62643608 |
Gnomad | rs62643608 |
Varsome | rs62643608 |
LitVar | rs62643608 |
Map | rs62643608 |
PheGenI | rs62643608 |
Biobank | rs62643608 |
1000 genomes | rs62643608 |
hgdp | rs62643608 |
ensembl | rs62643608 |
geneview | rs62643608 |
scholar | rs62643608 |
rs62643608 | |
pharmgkb | rs62643608 |
gwascentral | rs62643608 |
openSNP | rs62643608 |
23andMe | rs62643608 |
SNPshot | rs62643608 |
SNPdbe | rs62643608 |
MSV3d | rs62643608 |
GWAS Ctlg | rs62643608 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62643608(-;-) |
Alt | rs62643608(-;-) |
Reference | Rs62643608(T;T) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy 2 Atypical Rett syndrome Autism |
Variation | info |
Gene | CDKL5 |
CLNDBN | Early infantile epileptic encephalopathy 2 Atypical Rett syndrome Autism |
Reversed | 0 |
HGVS | NC_000023.10:g.18593511delT |
CLNSRC | RettBASE (CDKL5) |
CLNACC | RCV000133332.2, RCV000170012.1, RCV000170013.1, |