rs13045
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs13045(A;A) |
| Make rs13045(A;G) |
| Make rs13045(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 88595605 |
| Gene | EIF2AK3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs13045 |
| dbSNP (classic) | rs13045 |
| ClinGen | rs13045 |
| ebi | rs13045 |
| HLI | rs13045 |
| Exac | rs13045 |
| Gnomad | rs13045 |
| Varsome | rs13045 |
| LitVar | rs13045 |
| Map | rs13045 |
| PheGenI | rs13045 |
| Biobank | rs13045 |
| 1000 genomes | rs13045 |
| hgdp | rs13045 |
| ensembl | rs13045 |
| geneview | rs13045 |
| scholar | rs13045 |
| rs13045 | |
| pharmgkb | rs13045 |
| gwascentral | rs13045 |
| openSNP | rs13045 |
| 23andMe | rs13045 |
| SNPshot | rs13045 |
| SNPdbe | rs13045 |
| MSV3d | rs13045 |
| GWAS Ctlg | rs13045 |
| GMAF | 0.3471 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 22028037
] A functional haplotype in EIF2AK3, an ER stress sensor, is associated with lower bone mineral density
| ClinVar | |
|---|---|
| Risk | rs13045(G;G) |
| Alt | rs13045(G;G) |
| Reference | rs13045(A;A) |
| Significance | Other |
| Disease | not specified Wolcott-Rallison dysplasia |
| Variation | info |
| Gene | EIF2AK3 |
| CLNDBN | not specified Wolcott-Rallison dysplasia |
| Reversed | 1 |
| HGVS | NC_000002.11:g.88895123T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000116970.3, RCV000283479.1, |
