rs587783631
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CCACCCGCCG;CCACCCGCCG) | 0 | common in clinvar |
Make rs587783631(-;-) |
Make rs587783631(-;ACCCGCCGCC) |
Make rs587783631(ACCCGCCGCC;ACCCGCCGCC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 28767449 |
Gene | FOXG1 |
is a | snp |
is | mentioned by |
dbSNP | rs587783631 |
dbSNP (classic) | rs587783631 |
ClinGen | rs587783631 |
ebi | rs587783631 |
HLI | rs587783631 |
Exac | rs587783631 |
Gnomad | rs587783631 |
Varsome | rs587783631 |
LitVar | rs587783631 |
Map | rs587783631 |
PheGenI | rs587783631 |
Biobank | rs587783631 |
1000 genomes | rs587783631 |
hgdp | rs587783631 |
ensembl | rs587783631 |
geneview | rs587783631 |
scholar | rs587783631 |
rs587783631 | |
pharmgkb | rs587783631 |
gwascentral | rs587783631 |
openSNP | rs587783631 |
23andMe | rs587783631 |
SNPshot | rs587783631 |
SNPdbe | rs587783631 |
MSV3d | rs587783631 |
GWAS Ctlg | rs587783631 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783631(-;-) |
Alt | rs587783631(-;-) |
Reference | Rs587783631(CCACCCGCCG;CCACCCGCCG) |
Significance | Pathogenic |
Disease | Rett syndrome |
Variation | info |
Gene | FOXG1 |
CLNDBN | Rett syndrome, congenital variant |
Reversed | 0 |
HGVS | NC_000014.8:g.29236655_29236664delACCCGCCGCC |
CLNSRC | |
CLNACC | RCV000145983.1, |