rs267608327
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCC;TGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCC) | 0 | common in clinvar |
Make rs267608327(-;-) |
Make rs267608327(-;TGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 154030631 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs267608327 |
dbSNP (classic) | rs267608327 |
ClinGen | rs267608327 |
ebi | rs267608327 |
HLI | rs267608327 |
Exac | rs267608327 |
Gnomad | rs267608327 |
Varsome | rs267608327 |
LitVar | rs267608327 |
Map | rs267608327 |
PheGenI | rs267608327 |
Biobank | rs267608327 |
1000 genomes | rs267608327 |
hgdp | rs267608327 |
ensembl | rs267608327 |
geneview | rs267608327 |
scholar | rs267608327 |
rs267608327 | |
pharmgkb | rs267608327 |
gwascentral | rs267608327 |
openSNP | rs267608327 |
23andMe | rs267608327 |
SNPshot | rs267608327 |
SNPdbe | rs267608327 |
MSV3d | rs267608327 |
GWAS Ctlg | rs267608327 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267608327(-;-) |
Alt | rs267608327(-;-) |
Reference | Rs267608327(TGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCC;TGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCC) |
Significance | Pathogenic |
Disease | not provided Rett syndrome Mental retardation Autism |
Variation | info |
Gene | MECP2 |
CLNDBN | not provided Rett syndrome Mental retardation, X-linked, syndromic 13 Autism, susceptibility to, X-linked 3 |
Reversed | 1 |
HGVS | NC_000023.10:g.153296082_153296122del41 |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000132895.3, RCV000168701.5, RCV000169930.1, RCV000170099.1, |