rs587777054
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587777054(A;A) |
Make rs587777054(A;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 56351496 |
Gene | GNAO1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777054 |
dbSNP (classic) | rs587777054 |
ClinGen | rs587777054 |
ebi | rs587777054 |
HLI | rs587777054 |
Exac | rs587777054 |
Gnomad | rs587777054 |
Varsome | rs587777054 |
LitVar | rs587777054 |
Map | rs587777054 |
PheGenI | rs587777054 |
Biobank | rs587777054 |
1000 genomes | rs587777054 |
hgdp | rs587777054 |
ensembl | rs587777054 |
geneview | rs587777054 |
scholar | rs587777054 |
rs587777054 | |
pharmgkb | rs587777054 |
gwascentral | rs587777054 |
openSNP | rs587777054 |
23andMe | rs587777054 |
SNPshot | rs587777054 |
SNPdbe | rs587777054 |
MSV3d | rs587777054 |
GWAS Ctlg | rs587777054 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777054(A;A) |
Alt | rs587777054(A;A) |
Reference | Rs587777054(T;T) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy 17 |
Variation | info |
Gene | GNAO1 |
CLNDBN | Early infantile epileptic encephalopathy 17 |
Reversed | 0 |
HGVS | NC_000016.9:g.56385408T>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000056405.28, |