rs1805165
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1805165(G;T) |
| Make rs1805165(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 88575373 |
| Gene | EIF2AK3, LOC101928371 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1805165 |
| dbSNP (classic) | rs1805165 |
| ClinGen | rs1805165 |
| ebi | rs1805165 |
| HLI | rs1805165 |
| Exac | rs1805165 |
| Gnomad | rs1805165 |
| Varsome | rs1805165 |
| LitVar | rs1805165 |
| Map | rs1805165 |
| PheGenI | rs1805165 |
| Biobank | rs1805165 |
| 1000 genomes | rs1805165 |
| hgdp | rs1805165 |
| ensembl | rs1805165 |
| geneview | rs1805165 |
| scholar | rs1805165 |
| rs1805165 | |
| pharmgkb | rs1805165 |
| gwascentral | rs1805165 |
| openSNP | rs1805165 |
| 23andMe | rs1805165 |
| SNPshot | rs1805165 |
| SNPdbe | rs1805165 |
| MSV3d | rs1805165 |
| GWAS Ctlg | rs1805165 |
| GMAF | 0.2879 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 22028037
] A functional haplotype in EIF2AK3, an ER stress sensor, is associated with lower bone mineral density
Progressive Supranuclear Palsy
| ClinVar | |
|---|---|
| Risk | rs1805165(T;T) |
| Alt | rs1805165(T;T) |
| Reference | Rs1805165(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Wolcott-Rallison dysplasia |
| Variation | info |
| Gene | LOC101928371 EIF2AK3 |
| CLNDBN | not specified Wolcott-Rallison dysplasia |
| Reversed | 1 |
| HGVS | NC_000002.11:g.88874891C>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000116968.2, RCV000374096.1, |
