rs587777162
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587777162(C;T) |
Make rs587777162(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 20 |
Position | 63495972 |
Gene | EEF1A2 |
is a | snp |
is | mentioned by |
dbSNP | rs587777162 |
dbSNP (classic) | rs587777162 |
ClinGen | rs587777162 |
ebi | rs587777162 |
HLI | rs587777162 |
Exac | rs587777162 |
Gnomad | rs587777162 |
Varsome | rs587777162 |
LitVar | rs587777162 |
Map | rs587777162 |
PheGenI | rs587777162 |
Biobank | rs587777162 |
1000 genomes | rs587777162 |
hgdp | rs587777162 |
ensembl | rs587777162 |
geneview | rs587777162 |
scholar | rs587777162 |
rs587777162 | |
pharmgkb | rs587777162 |
gwascentral | rs587777162 |
openSNP | rs587777162 |
23andMe | rs587777162 |
SNPshot | rs587777162 |
SNPdbe | rs587777162 |
MSV3d | rs587777162 |
GWAS Ctlg | rs587777162 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777162(C;C) rs587777162(T;T) |
Alt | Rs587777162(C;C) rs587777162(T;T) |
Reference | Rs587777162(G;G) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy not provided |
Variation | info |
Gene | EEF1A2 |
CLNDBN | Epileptic encephalopathy, early infantile, 33 not provided |
Reversed | 1 |
HGVS | NC_000020.10:g.62127325C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000087144.4, RCV000327695.1, |