rs869312822
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs869312822(G;G) |
Make rs869312822(G;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 1806514 |
Gene | GNB1 |
is a | snp |
is | mentioned by |
dbSNP | rs869312822 |
dbSNP (classic) | rs869312822 |
ClinGen | rs869312822 |
ebi | rs869312822 |
HLI | rs869312822 |
Exac | rs869312822 |
Gnomad | rs869312822 |
Varsome | rs869312822 |
LitVar | rs869312822 |
Map | rs869312822 |
PheGenI | rs869312822 |
Biobank | rs869312822 |
1000 genomes | rs869312822 |
hgdp | rs869312822 |
ensembl | rs869312822 |
geneview | rs869312822 |
scholar | rs869312822 |
rs869312822 | |
pharmgkb | rs869312822 |
gwascentral | rs869312822 |
openSNP | rs869312822 |
23andMe | rs869312822 |
SNPshot | rs869312822 |
SNPdbe | rs869312822 |
MSV3d | rs869312822 |
GWAS Ctlg | rs869312822 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312822(G;G) |
Alt | rs869312822(G;G) |
Reference | Rs869312822(T;T) |
Significance | Pathogenic |
Disease | Failure to thrive Focal seizures with impairment of consciousness or awareness Global developmental delay Limb hypertonia Seizures Strabismus |
Variation | info |
Gene | GNB1 |
CLNDBN | Failure to thrive Focal seizures with impairment of consciousness or awareness Global developmental delay Limb hypertonia Seizures Strabismus |
Reversed | 1 |
HGVS | NC_000001.10:g.1737953A>C |
CLNSRC | |
CLNACC | RCV000210277.1, |