rs886039494
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs886039494(C;T) |
Make rs886039494(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 16 |
Position | 56336762 |
Gene | GNAO1 |
is a | snp |
is | mentioned by |
dbSNP | rs886039494 |
dbSNP (classic) | rs886039494 |
ClinGen | rs886039494 |
ebi | rs886039494 |
HLI | rs886039494 |
Exac | rs886039494 |
Gnomad | rs886039494 |
Varsome | rs886039494 |
LitVar | rs886039494 |
Map | rs886039494 |
PheGenI | rs886039494 |
Biobank | rs886039494 |
1000 genomes | rs886039494 |
hgdp | rs886039494 |
ensembl | rs886039494 |
geneview | rs886039494 |
scholar | rs886039494 |
rs886039494 | |
pharmgkb | rs886039494 |
gwascentral | rs886039494 |
openSNP | rs886039494 |
23andMe | rs886039494 |
SNPshot | rs886039494 |
SNPdbe | rs886039494 |
MSV3d | rs886039494 |
GWAS Ctlg | rs886039494 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886039494(G;G) rs886039494(T;T) |
Alt | rs886039494(G;G) rs886039494(T;T) |
Reference | Rs886039494(C;C) |
Significance | Pathogenic |
Disease | Neurodevelopmental disorder with involuntary movements not provided Early infantile epileptic encephalopathy |
Variation | info |
Gene | GNAO1 |
CLNDBN | Neurodevelopmental disorder with involuntary movements not provided Early infantile epileptic encephalopathy |
Reversed | 0 |
HGVS | NC_000016.9:g.56370674C>G; NC_000016.9:g.56370674C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000490630.1, RCV000256155.1, RCV000475848.1, RCV000490628.1, |