rs80359819
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80359819(A;A) |
Make rs80359819(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 42930754 |
Gene | SLC2A1 |
is a | snp |
is | mentioned by |
dbSNP | rs80359819 |
dbSNP (classic) | rs80359819 |
ClinGen | rs80359819 |
ebi | rs80359819 |
HLI | rs80359819 |
Exac | rs80359819 |
Gnomad | rs80359819 |
Varsome | rs80359819 |
LitVar | rs80359819 |
Map | rs80359819 |
PheGenI | rs80359819 |
Biobank | rs80359819 |
1000 genomes | rs80359819 |
hgdp | rs80359819 |
ensembl | rs80359819 |
geneview | rs80359819 |
scholar | rs80359819 |
rs80359819 | |
pharmgkb | rs80359819 |
gwascentral | rs80359819 |
openSNP | rs80359819 |
23andMe | rs80359819 |
SNPshot | rs80359819 |
SNPdbe | rs80359819 |
MSV3d | rs80359819 |
GWAS Ctlg | rs80359819 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80359819(A;A) rs80359819(C;C) |
Alt | rs80359819(A;A) rs80359819(C;C) |
Reference | Rs80359819(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | SLC2A1 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.43396425C>G |
CLNSRC | |
CLNACC | RCV000189352.1, |
[PMID 15622525] Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.