rs267608590
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CC;CC) | 0 | common in clinvar |
Make rs267608590(CC;T) |
Make rs267608590(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 154030668 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs267608590 |
dbSNP (classic) | rs267608590 |
ClinGen | rs267608590 |
ebi | rs267608590 |
HLI | rs267608590 |
Exac | rs267608590 |
Gnomad | rs267608590 |
Varsome | rs267608590 |
LitVar | rs267608590 |
Map | rs267608590 |
PheGenI | rs267608590 |
Biobank | rs267608590 |
1000 genomes | rs267608590 |
hgdp | rs267608590 |
ensembl | rs267608590 |
geneview | rs267608590 |
scholar | rs267608590 |
rs267608590 | |
pharmgkb | rs267608590 |
gwascentral | rs267608590 |
openSNP | rs267608590 |
23andMe | rs267608590 |
SNPshot | rs267608590 |
SNPdbe | rs267608590 |
MSV3d | rs267608590 |
GWAS Ctlg | rs267608590 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267608590(T;T) |
Alt | rs267608590(T;T) |
Reference | Rs267608590(CC;CC) |
Significance | Pathogenic |
Disease | Rett syndrome Mental retardation |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome Mental retardation, X-linked, syndromic 13 |
Reversed | 1 |
HGVS | NC_000023.10:g.153296119_153296120delGGinsA |
CLNSRC | |
CLNACC | RCV000132904.2, RCV000170101.1, |