rs2229682
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs2229682(A;A) |
| Make rs2229682(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 42929964 |
| Gene | SLC2A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2229682 |
| dbSNP (classic) | rs2229682 |
| ClinGen | rs2229682 |
| ebi | rs2229682 |
| HLI | rs2229682 |
| Exac | rs2229682 |
| Gnomad | rs2229682 |
| Varsome | rs2229682 |
| LitVar | rs2229682 |
| Map | rs2229682 |
| PheGenI | rs2229682 |
| Biobank | rs2229682 |
| 1000 genomes | rs2229682 |
| hgdp | rs2229682 |
| ensembl | rs2229682 |
| geneview | rs2229682 |
| scholar | rs2229682 |
| rs2229682 | |
| pharmgkb | rs2229682 |
| gwascentral | rs2229682 |
| openSNP | rs2229682 |
| 23andMe | rs2229682 |
| SNPshot | rs2229682 |
| SNPdbe | rs2229682 |
| MSV3d | rs2229682 |
| GWAS Ctlg | rs2229682 |
| GMAF | 0.1396 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 23427181
] Family-Based Association Study Between SLC2A1, HK1, and LEPR Polymorphisms With Myelomeningocele in Chile
[PMID 18212354
] Genes in glucose metabolism and association with spina bifida.
| ClinVar | |
|---|---|
| Risk | rs2229682(A;A) rs2229682(C;C) |
| Alt | rs2229682(A;A) rs2229682(C;C) |
| Reference | Rs2229682(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Dystonia Glucose transporter type 1 deficiency syndrome |
| Variation | info |
| Gene | SLC2A1 |
| CLNDBN | not specified Dystonia Glucose transporter type 1 deficiency syndrome |
| Reversed | 1 |
| HGVS | NC_000001.10:g.43395635C>T |
| CLNSRC | ClinVar Emory University University of Chicago |
| CLNACC | RCV000081436.7, RCV000263600.1, RCV000374556.1, |
