rs61749747
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61749747(C;T) |
Make rs61749747(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154031098 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs61749747 |
dbSNP (classic) | rs61749747 |
ClinGen | rs61749747 |
ebi | rs61749747 |
HLI | rs61749747 |
Exac | rs61749747 |
Gnomad | rs61749747 |
Varsome | rs61749747 |
LitVar | rs61749747 |
Map | rs61749747 |
PheGenI | rs61749747 |
Biobank | rs61749747 |
1000 genomes | rs61749747 |
hgdp | rs61749747 |
ensembl | rs61749747 |
geneview | rs61749747 |
scholar | rs61749747 |
rs61749747 | |
pharmgkb | rs61749747 |
gwascentral | rs61749747 |
openSNP | rs61749747 |
23andMe | rs61749747 |
SNPshot | rs61749747 |
SNPdbe | rs61749747 |
MSV3d | rs61749747 |
GWAS Ctlg | rs61749747 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61749747(T;T) |
Alt | rs61749747(T;T) |
Reference | Rs61749747(C;C) |
Significance | Pathogenic |
Disease | not provided Rett syndrome Mental retardation |
Variation | info |
Gene | MECP2 |
CLNDBN | not provided Rett syndrome Mental retardation, X-linked, syndromic 13 |
Reversed | 1 |
HGVS | NC_000023.10:g.153296549G>A |
CLNSRC | HGMD |
CLNACC | RCV000081208.5, RCV000168689.4, RCV000178228.1, |