rs797045599
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs797045599(C;T) |
Make rs797045599(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 56336817 |
Gene | GNAO1 |
is a | snp |
is | mentioned by |
dbSNP | rs797045599 |
dbSNP (classic) | rs797045599 |
ClinGen | rs797045599 |
ebi | rs797045599 |
HLI | rs797045599 |
Exac | rs797045599 |
Gnomad | rs797045599 |
Varsome | rs797045599 |
LitVar | rs797045599 |
Map | rs797045599 |
PheGenI | rs797045599 |
Biobank | rs797045599 |
1000 genomes | rs797045599 |
hgdp | rs797045599 |
ensembl | rs797045599 |
geneview | rs797045599 |
scholar | rs797045599 |
rs797045599 | |
pharmgkb | rs797045599 |
gwascentral | rs797045599 |
openSNP | rs797045599 |
23andMe | rs797045599 |
SNPshot | rs797045599 |
SNPdbe | rs797045599 |
MSV3d | rs797045599 |
GWAS Ctlg | rs797045599 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045599(T;T) |
Alt | rs797045599(T;T) |
Reference | Rs797045599(C;C) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy 17 not provided |
Variation | info |
Gene | GNAO1 |
CLNDBN | Early infantile epileptic encephalopathy 17 not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.56370729C>T |
CLNSRC | |
CLNACC | RCV000193275.1, RCV000493045.1, |