rs63749023
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGG;CCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGG) | 0 | common in clinvar |
Make rs63749023(-;-) |
Make rs63749023(-;CCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 154030636 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs63749023 |
dbSNP (classic) | rs63749023 |
ClinGen | rs63749023 |
ebi | rs63749023 |
HLI | rs63749023 |
Exac | rs63749023 |
Gnomad | rs63749023 |
Varsome | rs63749023 |
LitVar | rs63749023 |
Map | rs63749023 |
PheGenI | rs63749023 |
Biobank | rs63749023 |
1000 genomes | rs63749023 |
hgdp | rs63749023 |
ensembl | rs63749023 |
geneview | rs63749023 |
scholar | rs63749023 |
rs63749023 | |
pharmgkb | rs63749023 |
gwascentral | rs63749023 |
openSNP | rs63749023 |
23andMe | rs63749023 |
SNPshot | rs63749023 |
SNPdbe | rs63749023 |
MSV3d | rs63749023 |
GWAS Ctlg | rs63749023 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63749023(-;-) |
Alt | rs63749023(-;-) |
Reference | Rs63749023(CCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGG;CCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGG) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153296087_153296129del43 |
CLNSRC | |
CLNACC | RCV000132875.2, |