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, |