rs267608434
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CC;CC) | 0 | common in clinvar |
Make rs267608434(-;-) |
Make rs267608434(-;CC) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 154032416 |
Gene | MECP2 |
is a | snp |
is | mentioned by |
dbSNP | rs267608434 |
dbSNP (classic) | rs267608434 |
ClinGen | rs267608434 |
ebi | rs267608434 |
HLI | rs267608434 |
Exac | rs267608434 |
Gnomad | rs267608434 |
Varsome | rs267608434 |
LitVar | rs267608434 |
Map | rs267608434 |
PheGenI | rs267608434 |
Biobank | rs267608434 |
1000 genomes | rs267608434 |
hgdp | rs267608434 |
ensembl | rs267608434 |
geneview | rs267608434 |
scholar | rs267608434 |
rs267608434 | |
pharmgkb | rs267608434 |
gwascentral | rs267608434 |
openSNP | rs267608434 |
23andMe | rs267608434 |
SNPshot | rs267608434 |
SNPdbe | rs267608434 |
MSV3d | rs267608434 |
GWAS Ctlg | rs267608434 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267608434(-;-) |
Alt | rs267608434(-;-) |
Reference | Rs267608434(CC;CC) |
Significance | Pathogenic |
Disease | Rett syndrome Angelman syndrome |
Variation | info |
Gene | MECP2 |
CLNDBN | Rett syndrome Angelman syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.153297867_153297868delGG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012589.16, RCV000133026.2, |