rs61754432
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61754432(A;A) |
Make rs61754432(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 154032438 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs61754432 |
dbSNP (classic) | rs61754432 |
ClinGen | rs61754432 |
ebi | rs61754432 |
HLI | rs61754432 |
Exac | rs61754432 |
Gnomad | rs61754432 |
Varsome | rs61754432 |
LitVar | rs61754432 |
Map | rs61754432 |
PheGenI | rs61754432 |
Biobank | rs61754432 |
1000 genomes | rs61754432 |
hgdp | rs61754432 |
ensembl | rs61754432 |
geneview | rs61754432 |
scholar | rs61754432 |
rs61754432 | |
pharmgkb | rs61754432 |
gwascentral | rs61754432 |
openSNP | rs61754432 |
23andMe | rs61754432 |
SNPshot | rs61754432 |
SNPdbe | rs61754432 |
MSV3d | rs61754432 |
GWAS Ctlg | rs61754432 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61754432(A;A) rs61754432(G;G) |
Alt | rs61754432(A;A) rs61754432(G;G) |
Reference | Rs61754432(C;C) |
Significance | Pathogenic |
Disease | not provided Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | not provided Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153297889G>C; NC_000023.10:g.153297889G>T |
CLNSRC | |
CLNACC | RCV000133023.2, RCV000192902.1, RCV000133022.2, |