rs398124204
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398124204(-;G) |
Make rs398124204(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 28767739 |
Gene | FOXG1 |
is a | snp |
is | mentioned by |
dbSNP | rs398124204 |
dbSNP (classic) | rs398124204 |
ClinGen | rs398124204 |
ebi | rs398124204 |
HLI | rs398124204 |
Exac | rs398124204 |
Gnomad | rs398124204 |
Varsome | rs398124204 |
LitVar | rs398124204 |
Map | rs398124204 |
PheGenI | rs398124204 |
Biobank | rs398124204 |
1000 genomes | rs398124204 |
hgdp | rs398124204 |
ensembl | rs398124204 |
geneview | rs398124204 |
scholar | rs398124204 |
rs398124204 | |
pharmgkb | rs398124204 |
gwascentral | rs398124204 |
openSNP | rs398124204 |
23andMe | rs398124204 |
SNPshot | rs398124204 |
SNPdbe | rs398124204 |
MSV3d | rs398124204 |
GWAS Ctlg | rs398124204 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124204(G;G) |
Alt | rs398124204(G;G) |
Reference | Rs398124204(-;-) |
Significance | Pathogenic |
Disease | not provided Rett syndrome |
Variation | info |
Gene | FOXG1 |
CLNDBN | not provided Rett syndrome, congenital variant |
Reversed | 0 |
HGVS | NC_000014.8:g.29236945dupG |
CLNSRC | HGMD |
CLNACC | RCV000081281.6, RCV000170075.3, |