rs786205011
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786205011(-;-) |
Make rs786205011(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 28768248 |
Gene | FOXG1 |
is a | snp |
is | mentioned by |
dbSNP | rs786205011 |
dbSNP (classic) | rs786205011 |
ClinGen | rs786205011 |
ebi | rs786205011 |
HLI | rs786205011 |
Exac | rs786205011 |
Gnomad | rs786205011 |
Varsome | rs786205011 |
LitVar | rs786205011 |
Map | rs786205011 |
PheGenI | rs786205011 |
Biobank | rs786205011 |
1000 genomes | rs786205011 |
hgdp | rs786205011 |
ensembl | rs786205011 |
geneview | rs786205011 |
scholar | rs786205011 |
rs786205011 | |
pharmgkb | rs786205011 |
gwascentral | rs786205011 |
openSNP | rs786205011 |
23andMe | rs786205011 |
SNPshot | rs786205011 |
SNPdbe | rs786205011 |
MSV3d | rs786205011 |
GWAS Ctlg | rs786205011 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205011(-;-) |
Alt | rs786205011(-;-) |
Reference | Rs786205011(C;C) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | FOXG1 |
CLNDBN | Rett syndrome, congenital variant |
Reversed | 0 |
HGVS | NC_000014.8:g.29237454delC |
CLNSRC | |
CLNACC | RCV000170085.1, |