rs1385129
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs1385129(A;A) |
Make rs1385129(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 42943295 |
Gene | SLC2A1 |
is a | snp |
is | mentioned by |
dbSNP | rs1385129 |
dbSNP (classic) | rs1385129 |
ClinGen | rs1385129 |
ebi | rs1385129 |
HLI | rs1385129 |
Exac | rs1385129 |
Gnomad | rs1385129 |
Varsome | rs1385129 |
LitVar | rs1385129 |
Map | rs1385129 |
PheGenI | rs1385129 |
Biobank | rs1385129 |
1000 genomes | rs1385129 |
hgdp | rs1385129 |
ensembl | rs1385129 |
geneview | rs1385129 |
scholar | rs1385129 |
rs1385129 | |
pharmgkb | rs1385129 |
gwascentral | rs1385129 |
openSNP | rs1385129 |
23andMe | rs1385129 |
SNPshot | rs1385129 |
SNPdbe | rs1385129 |
MSV3d | rs1385129 |
GWAS Ctlg | rs1385129 |
GMAF | 0.2397 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 22707195] Relationship between five GLUT1 gene single nucleotide polymorphisms and diabetic nephropathy: a systematic review and meta-analysis
[PMID 18212354] Genes in glucose metabolism and association with spina bifida.
ClinVar | |
---|---|
Risk | rs1385129(A;A) |
Alt | rs1385129(A;A) |
Reference | Rs1385129(G;G) |
Significance | Non-pathogenic |
Disease | not specified Glucose transporter type 1 deficiency syndrome Dystonia |
Variation | info |
Gene | SLC2A1 |
CLNDBN | not specified Glucose transporter type 1 deficiency syndrome Dystonia |
Reversed | 0 |
HGVS | NC_000001.10:g.43408966G>A |
CLNSRC | ClinVar Emory University University of Chicago |
CLNACC | RCV000081435.7, RCV000311968.1, RCV000366638.1, |