rs878853161
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
Make rs878853161(-;-) |
Make rs878853161(-;AT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 42929977 |
Gene | SLC2A1 |
is a | snp |
is | mentioned by |
dbSNP | rs878853161 |
dbSNP (classic) | rs878853161 |
ClinGen | rs878853161 |
ebi | rs878853161 |
HLI | rs878853161 |
Exac | rs878853161 |
Gnomad | rs878853161 |
Varsome | rs878853161 |
LitVar | rs878853161 |
Map | rs878853161 |
PheGenI | rs878853161 |
Biobank | rs878853161 |
1000 genomes | rs878853161 |
hgdp | rs878853161 |
ensembl | rs878853161 |
geneview | rs878853161 |
scholar | rs878853161 |
rs878853161 | |
pharmgkb | rs878853161 |
gwascentral | rs878853161 |
openSNP | rs878853161 |
23andMe | rs878853161 |
SNPshot | rs878853161 |
SNPdbe | rs878853161 |
MSV3d | rs878853161 |
GWAS Ctlg | rs878853161 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853161(-;-) |
Alt | rs878853161(-;-) |
Reference | Rs878853161(AT;AT) |
Significance | Pathogenic |
Disease | GLUT1 deficiency syndrome 1 |
Variation | info |
Gene | SLC2A1 |
CLNDBN | GLUT1 deficiency syndrome 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.43395648_43395649delAT |
CLNSRC | |
CLNACC | RCV000224978.1, |