rs796052492
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs796052492(A;A) |
Make rs796052492(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 161890993 |
Gene | GABRA1 |
is a | snp |
is | mentioned by |
dbSNP | rs796052492 |
dbSNP (classic) | rs796052492 |
ClinGen | rs796052492 |
ebi | rs796052492 |
HLI | rs796052492 |
Exac | rs796052492 |
Gnomad | rs796052492 |
Varsome | rs796052492 |
LitVar | rs796052492 |
Map | rs796052492 |
PheGenI | rs796052492 |
Biobank | rs796052492 |
1000 genomes | rs796052492 |
hgdp | rs796052492 |
ensembl | rs796052492 |
geneview | rs796052492 |
scholar | rs796052492 |
rs796052492 | |
pharmgkb | rs796052492 |
gwascentral | rs796052492 |
openSNP | rs796052492 |
23andMe | rs796052492 |
SNPshot | rs796052492 |
SNPdbe | rs796052492 |
MSV3d | rs796052492 |
GWAS Ctlg | rs796052492 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796052492(A;A) |
Alt | rs796052492(A;A) |
Reference | Rs796052492(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided Epilepsy Epileptic encephalopathy |
Variation | info |
Gene | GABRA1 |
CLNDBN | not provided Epilepsy, juvenile myoclonic 5 Epileptic encephalopathy, early infantile, 19 |
Reversed | 0 |
HGVS | NC_000005.9:g.161317999C>A |
CLNSRC | |
CLNACC | RCV000187500.1, RCV000477826.1, |