rs796065334
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs796065334(-;G) |
Make rs796065334(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 42929274 |
Gene | SLC2A1 |
is a | snp |
is | mentioned by |
dbSNP | rs796065334 |
dbSNP (classic) | rs796065334 |
ClinGen | rs796065334 |
ebi | rs796065334 |
HLI | rs796065334 |
Exac | rs796065334 |
Gnomad | rs796065334 |
Varsome | rs796065334 |
LitVar | rs796065334 |
Map | rs796065334 |
PheGenI | rs796065334 |
Biobank | rs796065334 |
1000 genomes | rs796065334 |
hgdp | rs796065334 |
ensembl | rs796065334 |
geneview | rs796065334 |
scholar | rs796065334 |
rs796065334 | |
pharmgkb | rs796065334 |
gwascentral | rs796065334 |
openSNP | rs796065334 |
23andMe | rs796065334 |
SNPshot | rs796065334 |
SNPdbe | rs796065334 |
MSV3d | rs796065334 |
GWAS Ctlg | rs796065334 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796065334(G;G) |
Alt | rs796065334(G;G) |
Reference | Rs796065334(-;-) |
Significance | Pathogenic |
Disease | GLUT1 deficiency syndrome 1 Epilepsy |
Variation | info |
Gene | SLC2A1 |
CLNDBN | GLUT1 deficiency syndrome 1 Epilepsy, idiopathic generalized, susceptibility to, 12 |
Reversed | 1 |
HGVS | NC_000001.10:g.43394946dupC |
CLNSRC | |
CLNACC | RCV000179917.1, RCV000179918.1, |