rs786205047
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GA;GA) | 0 | common in clinvar |
Make rs786205047(-;-) |
Make rs786205047(-;GA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | X |
Position | 154097606 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs786205047 |
dbSNP (classic) | rs786205047 |
ClinGen | rs786205047 |
ebi | rs786205047 |
HLI | rs786205047 |
Exac | rs786205047 |
Gnomad | rs786205047 |
Varsome | rs786205047 |
LitVar | rs786205047 |
Map | rs786205047 |
PheGenI | rs786205047 |
Biobank | rs786205047 |
1000 genomes | rs786205047 |
hgdp | rs786205047 |
ensembl | rs786205047 |
geneview | rs786205047 |
scholar | rs786205047 |
rs786205047 | |
pharmgkb | rs786205047 |
gwascentral | rs786205047 |
openSNP | rs786205047 |
23andMe | rs786205047 |
SNPshot | rs786205047 |
SNPdbe | rs786205047 |
MSV3d | rs786205047 |
GWAS Ctlg | rs786205047 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205047(-;-) |
Alt | rs786205047(-;-) |
Reference | Rs786205047(GA;GA) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153363063_153363064delTC |
CLNSRC | |
CLNACC | RCV000170293.1, |