rs267608589
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCC;CACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCC) | 0 | common in clinvar |
(CCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGA;CCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs267608589(-;-) |
Make rs267608589(-;CCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 154030635 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs267608589 |
dbSNP (classic) | rs267608589 |
ClinGen | rs267608589 |
ebi | rs267608589 |
HLI | rs267608589 |
Exac | rs267608589 |
Gnomad | rs267608589 |
Varsome | rs267608589 |
LitVar | rs267608589 |
Map | rs267608589 |
PheGenI | rs267608589 |
Biobank | rs267608589 |
1000 genomes | rs267608589 |
hgdp | rs267608589 |
ensembl | rs267608589 |
geneview | rs267608589 |
scholar | rs267608589 |
rs267608589 | |
pharmgkb | rs267608589 |
gwascentral | rs267608589 |
openSNP | rs267608589 |
23andMe | rs267608589 |
SNPshot | rs267608589 |
SNPdbe | rs267608589 |
MSV3d | rs267608589 |
GWAS Ctlg | rs267608589 |
Merged from | Rs267608599 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs267608589(CACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCC;CACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCC) rs267608589(-;-) |
Alt | Rs267608589(CACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCC;CACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCC) rs267608589(-;-) |
Reference | Rs267608589(CCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGA;CCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGA) |
Significance | Pathogenic |
Disease | not provided Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | not provided Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153296082_153296116del35 |
CLNSRC | |
CLNACC | RCV000132906.1, RCV000132928.2, |