rs61750247
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61750247(-;-) |
Make rs61750247(-;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 154030998 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs61750247 |
dbSNP (classic) | rs61750247 |
ClinGen | rs61750247 |
ebi | rs61750247 |
HLI | rs61750247 |
Exac | rs61750247 |
Gnomad | rs61750247 |
Varsome | rs61750247 |
LitVar | rs61750247 |
Map | rs61750247 |
PheGenI | rs61750247 |
Biobank | rs61750247 |
1000 genomes | rs61750247 |
hgdp | rs61750247 |
ensembl | rs61750247 |
geneview | rs61750247 |
scholar | rs61750247 |
rs61750247 | |
pharmgkb | rs61750247 |
gwascentral | rs61750247 |
openSNP | rs61750247 |
23andMe | rs61750247 |
SNPshot | rs61750247 |
SNPdbe | rs61750247 |
MSV3d | rs61750247 |
GWAS Ctlg | rs61750247 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61750247(-;-) |
Alt | rs61750247(-;-) |
Reference | Rs61750247(C;C) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153296449delG |
CLNSRC | |
CLNACC | RCV000133250.2, |