rs786204980
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786204980(-;A) |
Make rs786204980(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | X |
Position | 18628405 |
Gene | CDKL5 |
is a | snp |
is | mentioned by |
dbSNP | rs786204980 |
dbSNP (classic) | rs786204980 |
ClinGen | rs786204980 |
ebi | rs786204980 |
HLI | rs786204980 |
Exac | rs786204980 |
Gnomad | rs786204980 |
Varsome | rs786204980 |
LitVar | rs786204980 |
Map | rs786204980 |
PheGenI | rs786204980 |
Biobank | rs786204980 |
1000 genomes | rs786204980 |
hgdp | rs786204980 |
ensembl | rs786204980 |
geneview | rs786204980 |
scholar | rs786204980 |
rs786204980 | |
pharmgkb | rs786204980 |
gwascentral | rs786204980 |
openSNP | rs786204980 |
23andMe | rs786204980 |
SNPshot | rs786204980 |
SNPdbe | rs786204980 |
MSV3d | rs786204980 |
GWAS Ctlg | rs786204980 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204980(A;A) |
Alt | rs786204980(A;A) |
Reference | Rs786204980(-;-) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | CDKL5 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.18646525dupA |
CLNSRC | RettBASE (CDKL5) |
CLNACC | RCV000170033.1, |