rs769743354
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs769743354(C;T) |
Make rs769743354(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 161854177 |
Gene | GABRA1 |
is a | snp |
is | mentioned by |
dbSNP | rs769743354 |
dbSNP (classic) | rs769743354 |
ClinGen | rs769743354 |
ebi | rs769743354 |
HLI | rs769743354 |
Exac | rs769743354 |
Gnomad | rs769743354 |
Varsome | rs769743354 |
LitVar | rs769743354 |
Map | rs769743354 |
PheGenI | rs769743354 |
Biobank | rs769743354 |
1000 genomes | rs769743354 |
hgdp | rs769743354 |
ensembl | rs769743354 |
geneview | rs769743354 |
scholar | rs769743354 |
rs769743354 | |
pharmgkb | rs769743354 |
gwascentral | rs769743354 |
openSNP | rs769743354 |
23andMe | rs769743354 |
SNPshot | rs769743354 |
SNPdbe | rs769743354 |
MSV3d | rs769743354 |
GWAS Ctlg | rs769743354 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769743354(A;A) rs769743354(T;T) |
Alt | rs769743354(A;A) rs769743354(T;T) |
Reference | Rs769743354(C;C) |
Significance | Probable-Pathogenic |
Disease | Epileptic encephalopathy not provided |
Variation | info |
Gene | GABRA1 |
CLNDBN | Epileptic encephalopathy, early infantile, 19 not provided |
Reversed | 0 |
HGVS | NC_000005.9:g.161281183C>T |
CLNSRC | |
CLNACC | RCV000209844.1, RCV000484867.1, |