rs267608464
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs267608464(A;G) |
Make rs267608464(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 154031452 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs267608464 |
dbSNP (classic) | rs267608464 |
ClinGen | rs267608464 |
ebi | rs267608464 |
HLI | rs267608464 |
Exac | rs267608464 |
Gnomad | rs267608464 |
Varsome | rs267608464 |
LitVar | rs267608464 |
Map | rs267608464 |
PheGenI | rs267608464 |
Biobank | rs267608464 |
1000 genomes | rs267608464 |
hgdp | rs267608464 |
ensembl | rs267608464 |
geneview | rs267608464 |
scholar | rs267608464 |
rs267608464 | |
pharmgkb | rs267608464 |
gwascentral | rs267608464 |
openSNP | rs267608464 |
23andMe | rs267608464 |
SNPshot | rs267608464 |
SNPdbe | rs267608464 |
MSV3d | rs267608464 |
GWAS Ctlg | rs267608464 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267608464(C;C) rs267608464(G;G) rs267608464(T;T) |
Alt | rs267608464(C;C) rs267608464(G;G) rs267608464(T;T) |
Reference | Rs267608464(A;A) |
Significance | Pathogenic |
Disease | not provided Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | not provided Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153296903T>A; NC_000023.10:g.153296903T>C; NC_000023.10:g.153296903T>G |
CLNSRC | |
CLNACC | RCV000144114.1, RCV000170200.1, RCV000144113.1, RCV000170199.1, RCV000144112.1, RCV000170198.1, |