rs61749739
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61749739(C;T) |
Make rs61749739(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 154031142 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs61749739 |
dbSNP (classic) | rs61749739 |
ClinGen | rs61749739 |
ebi | rs61749739 |
HLI | rs61749739 |
Exac | rs61749739 |
Gnomad | rs61749739 |
Varsome | rs61749739 |
LitVar | rs61749739 |
Map | rs61749739 |
PheGenI | rs61749739 |
Biobank | rs61749739 |
1000 genomes | rs61749739 |
hgdp | rs61749739 |
ensembl | rs61749739 |
geneview | rs61749739 |
scholar | rs61749739 |
rs61749739 | |
pharmgkb | rs61749739 |
gwascentral | rs61749739 |
openSNP | rs61749739 |
23andMe | rs61749739 |
SNPshot | rs61749739 |
SNPdbe | rs61749739 |
MSV3d | rs61749739 |
GWAS Ctlg | rs61749739 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61749739(A;A) rs61749739(T;T) |
Alt | rs61749739(A;A) rs61749739(T;T) |
Reference | Rs61749739(C;C) |
Significance | Other |
Disease | not specified Angelman syndrome Mental retardation Rett syndrome not provided |
Variation | info |
Gene | MECP2 |
CLNDBN | not specified Angelman syndrome Mental retardation, X-linked, syndromic 13 Rett syndrome not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.153296593G>A; NC_000023.10:g.153296593G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000133200.4, RCV000460836.1, RCV000133199.2, RCV000193948.1, |