rs797045045
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797045045(C;C) |
Make rs797045045(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 26567721 |
Gene | GABRB3 |
is a | snp |
is | mentioned by |
dbSNP | rs797045045 |
dbSNP (classic) | rs797045045 |
ClinGen | rs797045045 |
ebi | rs797045045 |
HLI | rs797045045 |
Exac | rs797045045 |
Gnomad | rs797045045 |
Varsome | rs797045045 |
LitVar | rs797045045 |
Map | rs797045045 |
PheGenI | rs797045045 |
Biobank | rs797045045 |
1000 genomes | rs797045045 |
hgdp | rs797045045 |
ensembl | rs797045045 |
geneview | rs797045045 |
scholar | rs797045045 |
rs797045045 | |
pharmgkb | rs797045045 |
gwascentral | rs797045045 |
openSNP | rs797045045 |
23andMe | rs797045045 |
SNPshot | rs797045045 |
SNPdbe | rs797045045 |
MSV3d | rs797045045 |
GWAS Ctlg | rs797045045 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045045(A;A) rs797045045(C;C) |
Alt | rs797045045(A;A) rs797045045(C;C) |
Reference | Rs797045045(G;G) |
Significance | Probable-Pathogenic |
Disease | Epilepsy not provided |
Variation | info |
Gene | GABRB3 |
CLNDBN | Epilepsy, childhood absence 5 not provided |
Reversed | 1 |
HGVS | NC_000015.9:g.26812868C>G; NC_000015.9:g.26812868C>T |
CLNSRC | Baylor College of Medicine |
CLNACC | RCV000191088.1, RCV000431904.1, |