rs786205028
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGG;AGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGG) | 0 | common in clinvar |
Make rs786205028(-;-) |
Make rs786205028(-;AGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | X |
Position | 154031010 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs786205028 |
dbSNP (classic) | rs786205028 |
ClinGen | rs786205028 |
ebi | rs786205028 |
HLI | rs786205028 |
Exac | rs786205028 |
Gnomad | rs786205028 |
Varsome | rs786205028 |
LitVar | rs786205028 |
Map | rs786205028 |
PheGenI | rs786205028 |
Biobank | rs786205028 |
1000 genomes | rs786205028 |
hgdp | rs786205028 |
ensembl | rs786205028 |
geneview | rs786205028 |
scholar | rs786205028 |
rs786205028 | |
pharmgkb | rs786205028 |
gwascentral | rs786205028 |
openSNP | rs786205028 |
23andMe | rs786205028 |
SNPshot | rs786205028 |
SNPdbe | rs786205028 |
MSV3d | rs786205028 |
GWAS Ctlg | rs786205028 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205028(-;-) |
Alt | rs786205028(-;-) |
Reference | Rs786205028(AGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGG;AGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGG) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153296461_153296494del34 |
CLNSRC | |
CLNACC | RCV000170216.1, |