rs61751445
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61751445(C;T) |
Make rs61751445(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154030896 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs61751445 |
dbSNP (classic) | rs61751445 |
ClinGen | rs61751445 |
ebi | rs61751445 |
HLI | rs61751445 |
Exac | rs61751445 |
Gnomad | rs61751445 |
Varsome | rs61751445 |
LitVar | rs61751445 |
Map | rs61751445 |
PheGenI | rs61751445 |
Biobank | rs61751445 |
1000 genomes | rs61751445 |
hgdp | rs61751445 |
ensembl | rs61751445 |
geneview | rs61751445 |
scholar | rs61751445 |
rs61751445 | |
pharmgkb | rs61751445 |
gwascentral | rs61751445 |
openSNP | rs61751445 |
23andMe | rs61751445 |
SNPshot | rs61751445 |
SNPdbe | rs61751445 |
MSV3d | rs61751445 |
GWAS Ctlg | rs61751445 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61751445(T;T) |
Alt | rs61751445(T;T) |
Reference | Rs61751445(C;C) |
Significance | Probable-non-pathogenic |
Disease | Rett syndrome Mental retardation not specified |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome Mental retardation, X-linked, syndromic 13 not specified |
Reversed | 1 |
HGVS | NC_000023.10:g.153296347G>A |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030168.3, RCV000133294.2, RCV000426076.1, |
[PMID 16672765] Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome.