rs587784396
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587784396(C;T) |
Make rs587784396(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 42929712 |
Gene | SLC2A1 |
is a | snp |
is | mentioned by |
dbSNP | rs587784396 |
dbSNP (classic) | rs587784396 |
ClinGen | rs587784396 |
ebi | rs587784396 |
HLI | rs587784396 |
Exac | rs587784396 |
Gnomad | rs587784396 |
Varsome | rs587784396 |
LitVar | rs587784396 |
Map | rs587784396 |
PheGenI | rs587784396 |
Biobank | rs587784396 |
1000 genomes | rs587784396 |
hgdp | rs587784396 |
ensembl | rs587784396 |
geneview | rs587784396 |
scholar | rs587784396 |
rs587784396 | |
pharmgkb | rs587784396 |
gwascentral | rs587784396 |
openSNP | rs587784396 |
23andMe | rs587784396 |
SNPshot | rs587784396 |
SNPdbe | rs587784396 |
MSV3d | rs587784396 |
GWAS Ctlg | rs587784396 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587784396(T;T) |
Alt | rs587784396(T;T) |
Reference | Rs587784396(C;C) |
Significance | Pathogenic |
Disease | GLUT1 deficiency syndrome 1 not provided |
Variation | info |
Gene | SLC2A1 |
CLNDBN | GLUT1 deficiency syndrome 1 not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.43395383G>A |
CLNSRC | |
CLNACC | RCV000147531.1, RCV000189359.1, |