rs121913678
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121913678(A;A) |
Make rs121913678(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 28768044 |
Gene | FOXG1 |
is a | snp |
is | mentioned by |
dbSNP | rs121913678 |
dbSNP (classic) | rs121913678 |
ClinGen | rs121913678 |
ebi | rs121913678 |
HLI | rs121913678 |
Exac | rs121913678 |
Gnomad | rs121913678 |
Varsome | rs121913678 |
LitVar | rs121913678 |
Map | rs121913678 |
PheGenI | rs121913678 |
Biobank | rs121913678 |
1000 genomes | rs121913678 |
hgdp | rs121913678 |
ensembl | rs121913678 |
geneview | rs121913678 |
scholar | rs121913678 |
rs121913678 | |
pharmgkb | rs121913678 |
gwascentral | rs121913678 |
openSNP | rs121913678 |
23andMe | rs121913678 |
SNPshot | rs121913678 |
SNPdbe | rs121913678 |
MSV3d | rs121913678 |
GWAS Ctlg | rs121913678 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913678(A;A) rs121913678(T;T) |
Alt | rs121913678(A;A) rs121913678(T;T) |
Reference | Rs121913678(G;G) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | FOXG1 |
CLNDBN | Rett syndrome, congenital variant |
Reversed | 0 |
HGVS | NC_000014.8:g.29237250G>A; NC_000014.8:g.29237250G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014881.26, RCV000145997.2, |