rs727505391
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs727505391(A;G) |
Make rs727505391(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 154031344 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs727505391 |
dbSNP (classic) | rs727505391 |
ClinGen | rs727505391 |
ebi | rs727505391 |
HLI | rs727505391 |
Exac | rs727505391 |
Gnomad | rs727505391 |
Varsome | rs727505391 |
LitVar | rs727505391 |
Map | rs727505391 |
PheGenI | rs727505391 |
Biobank | rs727505391 |
1000 genomes | rs727505391 |
hgdp | rs727505391 |
ensembl | rs727505391 |
geneview | rs727505391 |
scholar | rs727505391 |
rs727505391 | |
pharmgkb | rs727505391 |
gwascentral | rs727505391 |
openSNP | rs727505391 |
23andMe | rs727505391 |
SNPshot | rs727505391 |
SNPdbe | rs727505391 |
MSV3d | rs727505391 |
GWAS Ctlg | rs727505391 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727505391(G;G) |
Alt | rs727505391(G;G) |
Reference | Rs727505391(A;A) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153296795T>C |
CLNSRC | |
CLNACC | RCV000157062.2, |