rs267608627
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs267608627(-;C) |
Make rs267608627(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 154030463 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs267608627 |
dbSNP (classic) | rs267608627 |
ClinGen | rs267608627 |
ebi | rs267608627 |
HLI | rs267608627 |
Exac | rs267608627 |
Gnomad | rs267608627 |
Varsome | rs267608627 |
LitVar | rs267608627 |
Map | rs267608627 |
PheGenI | rs267608627 |
Biobank | rs267608627 |
1000 genomes | rs267608627 |
hgdp | rs267608627 |
ensembl | rs267608627 |
geneview | rs267608627 |
scholar | rs267608627 |
rs267608627 | |
pharmgkb | rs267608627 |
gwascentral | rs267608627 |
openSNP | rs267608627 |
23andMe | rs267608627 |
SNPshot | rs267608627 |
SNPdbe | rs267608627 |
MSV3d | rs267608627 |
GWAS Ctlg | rs267608627 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267608627(C;C) |
Alt | rs267608627(C;C) |
Reference | Rs267608627(-;-) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153295914_153295915insG |
CLNSRC | |
CLNACC | RCV000132998.2, |