rs786205010
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GACGT;GACGT) | 0 | common in clinvar |
Make rs786205010(-;-) |
Make rs786205010(-;ACGTG) |
Make rs786205010(ACGTG;ACGTG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 28768067 |
Gene | FOXG1 |
is a | snp |
is | mentioned by |
dbSNP | rs786205010 |
dbSNP (classic) | rs786205010 |
ClinGen | rs786205010 |
ebi | rs786205010 |
HLI | rs786205010 |
Exac | rs786205010 |
Gnomad | rs786205010 |
Varsome | rs786205010 |
LitVar | rs786205010 |
Map | rs786205010 |
PheGenI | rs786205010 |
Biobank | rs786205010 |
1000 genomes | rs786205010 |
hgdp | rs786205010 |
ensembl | rs786205010 |
geneview | rs786205010 |
scholar | rs786205010 |
rs786205010 | |
pharmgkb | rs786205010 |
gwascentral | rs786205010 |
openSNP | rs786205010 |
23andMe | rs786205010 |
SNPshot | rs786205010 |
SNPdbe | rs786205010 |
MSV3d | rs786205010 |
GWAS Ctlg | rs786205010 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205010(-;-) |
Alt | rs786205010(-;-) |
Reference | Rs786205010(GACGT;GACGT) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | FOXG1 |
CLNDBN | Rett syndrome, congenital variant |
Reversed | 0 |
HGVS | NC_000014.8:g.29237273_29237277delACGTG |
CLNSRC | |
CLNACC | RCV000170084.1, |