rs61748381
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61748381(C;T) |
Make rs61748381(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 154031226 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs61748381 |
dbSNP (classic) | rs61748381 |
ClinGen | rs61748381 |
ebi | rs61748381 |
HLI | rs61748381 |
Exac | rs61748381 |
Gnomad | rs61748381 |
Varsome | rs61748381 |
LitVar | rs61748381 |
Map | rs61748381 |
PheGenI | rs61748381 |
Biobank | rs61748381 |
1000 genomes | rs61748381 |
hgdp | rs61748381 |
ensembl | rs61748381 |
geneview | rs61748381 |
scholar | rs61748381 |
rs61748381 | |
pharmgkb | rs61748381 |
gwascentral | rs61748381 |
openSNP | rs61748381 |
23andMe | rs61748381 |
SNPshot | rs61748381 |
SNPdbe | rs61748381 |
MSV3d | rs61748381 |
GWAS Ctlg | rs61748381 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61748381(T;T) |
Alt | rs61748381(T;T) |
Reference | Rs61748381(C;C) |
Significance | Pathogenic |
Disease | not specified Rett syndrome not provided Angelman syndrome Mental retardation |
Variation | info |
Gene | MECP2 |
CLNDBN | not specified Rett syndrome not provided Angelman syndrome Mental retardation, X-linked, syndromic 13 |
Reversed | 1 |
HGVS | NC_000023.10:g.153296677G>A |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000153477.8, RCV000202489.1, RCV000224215.1, RCV000464516.1, |