rs786205003
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GG;GG) | 0 | common in clinvar |
Make rs786205003(GG;T) |
Make rs786205003(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 28767784 |
Gene | FOXG1 |
is a | snp |
is | mentioned by |
dbSNP | rs786205003 |
dbSNP (classic) | rs786205003 |
ClinGen | rs786205003 |
ebi | rs786205003 |
HLI | rs786205003 |
Exac | rs786205003 |
Gnomad | rs786205003 |
Varsome | rs786205003 |
LitVar | rs786205003 |
Map | rs786205003 |
PheGenI | rs786205003 |
Biobank | rs786205003 |
1000 genomes | rs786205003 |
hgdp | rs786205003 |
ensembl | rs786205003 |
geneview | rs786205003 |
scholar | rs786205003 |
rs786205003 | |
pharmgkb | rs786205003 |
gwascentral | rs786205003 |
openSNP | rs786205003 |
23andMe | rs786205003 |
SNPshot | rs786205003 |
SNPdbe | rs786205003 |
MSV3d | rs786205003 |
GWAS Ctlg | rs786205003 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205003(T;T) |
Alt | rs786205003(T;T) |
Reference | Rs786205003(GG;GG) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | FOXG1 |
CLNDBN | Rett syndrome, congenital variant |
Reversed | 0 |
HGVS | NC_000014.8:g.29236990_29236991delGGinsT |
CLNSRC | |
CLNACC | RCV000170076.2, |