rs267608596
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCC;CCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCC) | 0 | common in clinvar |
Make rs267608596(A;A) |
Make rs267608596(A;CCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 154030623 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs267608596 |
dbSNP (classic) | rs267608596 |
ClinGen | rs267608596 |
ebi | rs267608596 |
HLI | rs267608596 |
Exac | rs267608596 |
Gnomad | rs267608596 |
Varsome | rs267608596 |
LitVar | rs267608596 |
Map | rs267608596 |
PheGenI | rs267608596 |
Biobank | rs267608596 |
1000 genomes | rs267608596 |
hgdp | rs267608596 |
ensembl | rs267608596 |
geneview | rs267608596 |
scholar | rs267608596 |
rs267608596 | |
pharmgkb | rs267608596 |
gwascentral | rs267608596 |
openSNP | rs267608596 |
23andMe | rs267608596 |
SNPshot | rs267608596 |
SNPdbe | rs267608596 |
MSV3d | rs267608596 |
GWAS Ctlg | rs267608596 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267608596(A;A) |
Alt | rs267608596(A;A) |
Reference | Rs267608596(CCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCC;CCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCC) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153296074_153296118del45insT |
CLNSRC | |
CLNACC | RCV000132918.2, |