rs794727870
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794727870(A;A) |
Make rs794727870(A;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 42929244 |
Gene | SLC2A1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727870 |
dbSNP (classic) | rs794727870 |
ClinGen | rs794727870 |
ebi | rs794727870 |
HLI | rs794727870 |
Exac | rs794727870 |
Gnomad | rs794727870 |
Varsome | rs794727870 |
LitVar | rs794727870 |
Map | rs794727870 |
PheGenI | rs794727870 |
Biobank | rs794727870 |
1000 genomes | rs794727870 |
hgdp | rs794727870 |
ensembl | rs794727870 |
geneview | rs794727870 |
scholar | rs794727870 |
rs794727870 | |
pharmgkb | rs794727870 |
gwascentral | rs794727870 |
openSNP | rs794727870 |
23andMe | rs794727870 |
SNPshot | rs794727870 |
SNPdbe | rs794727870 |
MSV3d | rs794727870 |
GWAS Ctlg | rs794727870 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727870(A;A) rs794727870(T;T) |
Alt | rs794727870(A;A) rs794727870(T;T) |
Reference | Rs794727870(C;C) |
Significance | Probable-Pathogenic |
Disease | GLUT1 deficiency syndrome 2 not specified |
Variation | info |
Gene | SLC2A1 |
CLNDBN | GLUT1 deficiency syndrome 2 not specified |
Reversed | 1 |
HGVS | NC_000001.10:g.43394915G>A; NC_000001.10:g.43394915G>T |
CLNSRC | |
CLNACC | RCV000209836.1, RCV000179922.1, |