rs786204311
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786204311(-;GGGAGTGTGGTGGCAGCCG) |
Make rs786204311(GGGAGTGTGGTGGCAGCCG;GGGAGTGTGGTGGCAGCCG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | X |
Position | 154030992 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs786204311 |
dbSNP (classic) | rs786204311 |
ClinGen | rs786204311 |
ebi | rs786204311 |
HLI | rs786204311 |
Exac | rs786204311 |
Gnomad | rs786204311 |
Varsome | rs786204311 |
LitVar | rs786204311 |
Map | rs786204311 |
PheGenI | rs786204311 |
Biobank | rs786204311 |
1000 genomes | rs786204311 |
hgdp | rs786204311 |
ensembl | rs786204311 |
geneview | rs786204311 |
scholar | rs786204311 |
rs786204311 | |
pharmgkb | rs786204311 |
gwascentral | rs786204311 |
openSNP | rs786204311 |
23andMe | rs786204311 |
SNPshot | rs786204311 |
SNPdbe | rs786204311 |
MSV3d | rs786204311 |
GWAS Ctlg | rs786204311 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204311(GGGAGTGTGGTGGCAGCCG;GGGAGTGTGGTGGCAGCCG) |
Alt | rs786204311(GGGAGTGTGGTGGCAGCCG;GGGAGTGTGGTGGCAGCCG) |
Reference | Rs786204311(-;-) |
Significance | Probable-Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153296444_153296462dup19 |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000168693.2, |