rs61754431
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs61754431(-;A) |
Make rs61754431(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 154032443 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs61754431 |
dbSNP (classic) | rs61754431 |
ClinGen | rs61754431 |
ebi | rs61754431 |
HLI | rs61754431 |
Exac | rs61754431 |
Gnomad | rs61754431 |
Varsome | rs61754431 |
LitVar | rs61754431 |
Map | rs61754431 |
PheGenI | rs61754431 |
Biobank | rs61754431 |
1000 genomes | rs61754431 |
hgdp | rs61754431 |
ensembl | rs61754431 |
geneview | rs61754431 |
scholar | rs61754431 |
rs61754431 | |
pharmgkb | rs61754431 |
gwascentral | rs61754431 |
openSNP | rs61754431 |
23andMe | rs61754431 |
SNPshot | rs61754431 |
SNPdbe | rs61754431 |
MSV3d | rs61754431 |
GWAS Ctlg | rs61754431 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61754431(A;A) |
Alt | rs61754431(A;A) |
Reference | Rs61754431(-;-) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153297895dupT |
CLNSRC | |
CLNACC | RCV000133003.2, |