rs727503934
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CCTTACTA;CCTTACTA) | 0 | common in clinvar |
Make rs727503934(-;-) |
Make rs727503934(-;TTACTACC) |
Make rs727503934(TTACTACC;TTACTACC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 28767927 |
Gene | FOXG1 |
is a | snp |
is | mentioned by |
dbSNP | rs727503934 |
dbSNP (classic) | rs727503934 |
ClinGen | rs727503934 |
ebi | rs727503934 |
HLI | rs727503934 |
Exac | rs727503934 |
Gnomad | rs727503934 |
Varsome | rs727503934 |
LitVar | rs727503934 |
Map | rs727503934 |
PheGenI | rs727503934 |
Biobank | rs727503934 |
1000 genomes | rs727503934 |
hgdp | rs727503934 |
ensembl | rs727503934 |
geneview | rs727503934 |
scholar | rs727503934 |
rs727503934 | |
pharmgkb | rs727503934 |
gwascentral | rs727503934 |
openSNP | rs727503934 |
23andMe | rs727503934 |
SNPshot | rs727503934 |
SNPdbe | rs727503934 |
MSV3d | rs727503934 |
GWAS Ctlg | rs727503934 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503934(-;-) |
Alt | rs727503934(-;-) |
Reference | Rs727503934(CCTTACTA;CCTTACTA) |
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.29237133_29237140delTTACTACC |
CLNSRC | |
CLNACC | RCV000153264.3, RCV000339867.1, |