rs1057516138
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057516138(G;T) |
Make rs1057516138(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 14 |
Position | 28767833 |
Gene | FOXG1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516138 |
dbSNP (classic) | rs1057516138 |
ClinGen | rs1057516138 |
ebi | rs1057516138 |
HLI | rs1057516138 |
Exac | rs1057516138 |
Gnomad | rs1057516138 |
Varsome | rs1057516138 |
LitVar | rs1057516138 |
Map | rs1057516138 |
PheGenI | rs1057516138 |
Biobank | rs1057516138 |
1000 genomes | rs1057516138 |
hgdp | rs1057516138 |
ensembl | rs1057516138 |
geneview | rs1057516138 |
scholar | rs1057516138 |
rs1057516138 | |
pharmgkb | rs1057516138 |
gwascentral | rs1057516138 |
openSNP | rs1057516138 |
23andMe | rs1057516138 |
SNPshot | rs1057516138 |
SNPdbe | rs1057516138 |
MSV3d | rs1057516138 |
GWAS Ctlg | rs1057516138 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516138(T;T) |
Alt | rs1057516138(T;T) |
Reference | Rs1057516138(G;G) |
Significance | Probable-Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | FOXG1 |
CLNDBN | Rett syndrome, congenital variant |
Reversed | 0 |
HGVS | NC_000014.8:g.29237039G>T |
CLNSRC | |
CLNACC | RCV000408825.1, |