rs61754458
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs61754458(A;A) |
Make rs61754458(A;T) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 154032261 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs61754458 |
dbSNP (classic) | rs61754458 |
ClinGen | rs61754458 |
ebi | rs61754458 |
HLI | rs61754458 |
Exac | rs61754458 |
Gnomad | rs61754458 |
Varsome | rs61754458 |
LitVar | rs61754458 |
Map | rs61754458 |
PheGenI | rs61754458 |
Biobank | rs61754458 |
1000 genomes | rs61754458 |
hgdp | rs61754458 |
ensembl | rs61754458 |
geneview | rs61754458 |
scholar | rs61754458 |
rs61754458 | |
pharmgkb | rs61754458 |
gwascentral | rs61754458 |
openSNP | rs61754458 |
23andMe | rs61754458 |
SNPshot | rs61754458 |
SNPdbe | rs61754458 |
MSV3d | rs61754458 |
GWAS Ctlg | rs61754458 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61754458(A;A) rs61754458(C;C) |
Alt | rs61754458(A;A) rs61754458(C;C) |
Reference | Rs61754458(T;T) |
Significance | Probable-Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153297712A>T |
CLNSRC | ClinVar GeneDx |
CLNACC | RCV000133069.2, |