rs267608615
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CCCAGGACTTGAGCAGC;CCCAGGACTTGAGCAGC) | 0 | common in clinvar |
Make rs267608615(-;-) |
Make rs267608615(-;CCCAGGACTTGAGCAGC) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 154030598 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs267608615 |
dbSNP (classic) | rs267608615 |
ClinGen | rs267608615 |
ebi | rs267608615 |
HLI | rs267608615 |
Exac | rs267608615 |
Gnomad | rs267608615 |
Varsome | rs267608615 |
LitVar | rs267608615 |
Map | rs267608615 |
PheGenI | rs267608615 |
Biobank | rs267608615 |
1000 genomes | rs267608615 |
hgdp | rs267608615 |
ensembl | rs267608615 |
geneview | rs267608615 |
scholar | rs267608615 |
rs267608615 | |
pharmgkb | rs267608615 |
gwascentral | rs267608615 |
openSNP | rs267608615 |
23andMe | rs267608615 |
SNPshot | rs267608615 |
SNPdbe | rs267608615 |
MSV3d | rs267608615 |
GWAS Ctlg | rs267608615 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267608615(-;-) |
Alt | rs267608615(-;-) |
Reference | Rs267608615(CCCAGGACTTGAGCAGC;CCCAGGACTTGAGCAGC) |
Significance | Pathogenic |
Disease | not provided Encephalopathy |
Variation | info |
Gene | MECP2 |
CLNDBN | not provided Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153296049_153296065del17 |
CLNSRC | ClinVar University of Chicago |
CLNACC | RCV000132965.2, RCV000146351.1, |