rs61748393
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61748393(-;-) |
Make rs61748393(-;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 154031417 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs61748393 |
dbSNP (classic) | rs61748393 |
ClinGen | rs61748393 |
ebi | rs61748393 |
HLI | rs61748393 |
Exac | rs61748393 |
Gnomad | rs61748393 |
Varsome | rs61748393 |
LitVar | rs61748393 |
Map | rs61748393 |
PheGenI | rs61748393 |
Biobank | rs61748393 |
1000 genomes | rs61748393 |
hgdp | rs61748393 |
ensembl | rs61748393 |
geneview | rs61748393 |
scholar | rs61748393 |
rs61748393 | |
pharmgkb | rs61748393 |
gwascentral | rs61748393 |
openSNP | rs61748393 |
23andMe | rs61748393 |
SNPshot | rs61748393 |
SNPdbe | rs61748393 |
MSV3d | rs61748393 |
GWAS Ctlg | rs61748393 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61748393(-;-) |
Alt | rs61748393(-;-) |
Reference | Rs61748393(G;G) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153296868delC |
CLNSRC | |
CLNACC | RCV000133099.2, |