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, |