rs786204988
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786204988(-;GT) |
Make rs786204988(GT;GT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | X |
Position | 18584310 |
Gene | CDKL5 |
is a | snp |
is | mentioned by |
dbSNP | rs786204988 |
dbSNP (classic) | rs786204988 |
ClinGen | rs786204988 |
ebi | rs786204988 |
HLI | rs786204988 |
Exac | rs786204988 |
Gnomad | rs786204988 |
Varsome | rs786204988 |
LitVar | rs786204988 |
Map | rs786204988 |
PheGenI | rs786204988 |
Biobank | rs786204988 |
1000 genomes | rs786204988 |
hgdp | rs786204988 |
ensembl | rs786204988 |
geneview | rs786204988 |
scholar | rs786204988 |
rs786204988 | |
pharmgkb | rs786204988 |
gwascentral | rs786204988 |
openSNP | rs786204988 |
23andMe | rs786204988 |
SNPshot | rs786204988 |
SNPdbe | rs786204988 |
MSV3d | rs786204988 |
GWAS Ctlg | rs786204988 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204988(GT;GT) |
Alt | rs786204988(GT;GT) |
Reference | Rs786204988(-;-) |
Significance | Pathogenic |
Disease | Atypical Rett syndrome |
Variation | info |
Gene | CDKL5 |
CLNDBN | Atypical Rett syndrome |
Reversed | 0 |
HGVS | NC_000023.10:g.18602429_18602430dupGT |
CLNSRC | RettBASE (CDKL5) |
CLNACC | RCV000170048.1, |