rs2234962
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common on affy axiom data |
| Make rs2234962(C;C) |
| Make rs2234962(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 119670121 |
| Gene | BAG3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2234962 |
| dbSNP (classic) | rs2234962 |
| ClinGen | rs2234962 |
| ebi | rs2234962 |
| HLI | rs2234962 |
| Exac | rs2234962 |
| Gnomad | rs2234962 |
| Varsome | rs2234962 |
| LitVar | rs2234962 |
| Map | rs2234962 |
| PheGenI | rs2234962 |
| Biobank | rs2234962 |
| 1000 genomes | rs2234962 |
| hgdp | rs2234962 |
| ensembl | rs2234962 |
| geneview | rs2234962 |
| scholar | rs2234962 |
| rs2234962 | |
| pharmgkb | rs2234962 |
| gwascentral | rs2234962 |
| openSNP | rs2234962 |
| 23andMe | rs2234962 |
| SNPshot | rs2234962 |
| SNPdbe | rs2234962 |
| MSV3d | rs2234962 |
| GWAS Ctlg | rs2234962 |
| GMAF | 0.09963 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 21459883 ]
|
| Trait | |
| Title | A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy |
| Risk Allele | |
| P-val | 4E-12 |
| Odds Ratio | 1.5200 [1.22-1.89] |
[PMID 16385451] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
| ClinVar | |
|---|---|
| Risk | rs2234962(C;C) |
| Alt | rs2234962(C;C) |
| Reference | Rs2234962(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Cardiovascular phenotype Dilated Cardiomyopathy Myofibrillar Myopathy |
| Variation | info |
| Gene | BAG3 |
| CLNDBN | not specified Cardiovascular phenotype Dilated Cardiomyopathy, Dominant Myofibrillar Myopathy, Dominant |
| Reversed | 0 |
| HGVS | NC_000010.10:g.121429633T>C |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000037893.9, RCV000243456.1, RCV000276835.1, RCV000369042.1, |
