rs62701461
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GTAC;GTAC) | 0 | common in clinvar |
Make rs62701461(-;-) |
Make rs62701461(-;GTAC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 154030927 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs62701461 |
dbSNP (classic) | rs62701461 |
ClinGen | rs62701461 |
ebi | rs62701461 |
HLI | rs62701461 |
Exac | rs62701461 |
Gnomad | rs62701461 |
Varsome | rs62701461 |
LitVar | rs62701461 |
Map | rs62701461 |
PheGenI | rs62701461 |
Biobank | rs62701461 |
1000 genomes | rs62701461 |
hgdp | rs62701461 |
ensembl | rs62701461 |
geneview | rs62701461 |
scholar | rs62701461 |
rs62701461 | |
pharmgkb | rs62701461 |
gwascentral | rs62701461 |
openSNP | rs62701461 |
23andMe | rs62701461 |
SNPshot | rs62701461 |
SNPdbe | rs62701461 |
MSV3d | rs62701461 |
GWAS Ctlg | rs62701461 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62701461(-;-) |
Alt | rs62701461(-;-) |
Reference | Rs62701461(GTAC;GTAC) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153296378_153296381delGTAC |
CLNSRC | |
CLNACC | RCV000133271.2, |