rs61751439
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61751439(C;G) |
Make rs61751439(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154030919 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs61751439 |
dbSNP (classic) | rs61751439 |
ClinGen | rs61751439 |
ebi | rs61751439 |
HLI | rs61751439 |
Exac | rs61751439 |
Gnomad | rs61751439 |
Varsome | rs61751439 |
LitVar | rs61751439 |
Map | rs61751439 |
PheGenI | rs61751439 |
Biobank | rs61751439 |
1000 genomes | rs61751439 |
hgdp | rs61751439 |
ensembl | rs61751439 |
geneview | rs61751439 |
scholar | rs61751439 |
rs61751439 | |
pharmgkb | rs61751439 |
gwascentral | rs61751439 |
openSNP | rs61751439 |
23andMe | rs61751439 |
SNPshot | rs61751439 |
SNPdbe | rs61751439 |
MSV3d | rs61751439 |
GWAS Ctlg | rs61751439 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61751439(G;G) |
Alt | rs61751439(G;G) |
Reference | Rs61751439(C;C) |
Significance | Probable-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.153296370G>C |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030167.1, RCV000133285.2, |
[PMID 15173251] Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases.