rs797045694
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGGACCTCCAG;AGGACCTCCAG) | 0 | common in clinvar |
Make rs797045694(-;-) |
Make rs797045694(-;AGGACCTCCAG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 154032527 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs797045694 |
dbSNP (classic) | rs797045694 |
ClinGen | rs797045694 |
ebi | rs797045694 |
HLI | rs797045694 |
Exac | rs797045694 |
Gnomad | rs797045694 |
Varsome | rs797045694 |
LitVar | rs797045694 |
Map | rs797045694 |
PheGenI | rs797045694 |
Biobank | rs797045694 |
1000 genomes | rs797045694 |
hgdp | rs797045694 |
ensembl | rs797045694 |
geneview | rs797045694 |
scholar | rs797045694 |
rs797045694 | |
pharmgkb | rs797045694 |
gwascentral | rs797045694 |
openSNP | rs797045694 |
23andMe | rs797045694 |
SNPshot | rs797045694 |
SNPdbe | rs797045694 |
MSV3d | rs797045694 |
GWAS Ctlg | rs797045694 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045694(-;-) |
Alt | rs797045694(-;-) |
Reference | Rs797045694(AGGACCTCCAG;AGGACCTCCAG) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153297978_153297988delCTGGAGGTCCT |
CLNSRC | |
CLNACC | RCV000193568.1, |