rs2274224
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs2274224(C;C) |
| Make rs2274224(C;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 94279840 |
| Gene | PLCE1, PLCE1-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2274224 |
| dbSNP (classic) | rs2274224 |
| ClinGen | rs2274224 |
| ebi | rs2274224 |
| HLI | rs2274224 |
| Exac | rs2274224 |
| Gnomad | rs2274224 |
| Varsome | rs2274224 |
| LitVar | rs2274224 |
| Map | rs2274224 |
| PheGenI | rs2274224 |
| Biobank | rs2274224 |
| 1000 genomes | rs2274224 |
| hgdp | rs2274224 |
| ensembl | rs2274224 |
| geneview | rs2274224 |
| scholar | rs2274224 |
| rs2274224 | |
| pharmgkb | rs2274224 |
| gwascentral | rs2274224 |
| openSNP | rs2274224 |
| 23andMe | rs2274224 |
| SNPshot | rs2274224 |
| SNPdbe | rs2274224 |
| MSV3d | rs2274224 |
| GWAS Ctlg | rs2274224 |
| GMAF | 0.4683 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 23688607] Novel functional variants locus in PLCE1 and susceptibility to esophageal squamous cell carcinoma: Based on published genome-wide association studies in a central Chinese population
[PMID 16385451
] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
| ClinVar | |
|---|---|
| Risk | rs2274224(A;A) rs2274224(C;C) |
| Alt | rs2274224(A;A) rs2274224(C;C) |
| Reference | Rs2274224(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Nephrotic syndrome |
| Variation | info |
| Gene | PLCE1 PLCE1-AS1 |
| CLNDBN | not specified Nephrotic syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.96039597G>C |
| CLNSRC | |
| CLNACC | RCV000254331.1, RCV000394591.1, |
