rs61748389
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61748389(G;T) |
Make rs61748389(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 154031430 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs61748389 |
dbSNP (classic) | rs61748389 |
ClinGen | rs61748389 |
ebi | rs61748389 |
HLI | rs61748389 |
Exac | rs61748389 |
Gnomad | rs61748389 |
Varsome | rs61748389 |
LitVar | rs61748389 |
Map | rs61748389 |
PheGenI | rs61748389 |
Biobank | rs61748389 |
1000 genomes | rs61748389 |
hgdp | rs61748389 |
ensembl | rs61748389 |
geneview | rs61748389 |
scholar | rs61748389 |
rs61748389 | |
pharmgkb | rs61748389 |
gwascentral | rs61748389 |
openSNP | rs61748389 |
23andMe | rs61748389 |
SNPshot | rs61748389 |
SNPdbe | rs61748389 |
MSV3d | rs61748389 |
GWAS Ctlg | rs61748389 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61748389(A;A) rs61748389(T;T) |
Alt | rs61748389(A;A) rs61748389(T;T) |
Reference | Rs61748389(G;G) |
Significance | Pathogenic |
Disease | Rett syndrome not provided |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.153296881C>A; NC_000023.10:g.153296881C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000133093.2, RCV000133092.5, RCV000169945.1, |