rs2230234
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs2230234(A;G) |
| Make rs2230234(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 31524751 |
| Gene | DSG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2230234 |
| dbSNP (classic) | rs2230234 |
| ClinGen | rs2230234 |
| ebi | rs2230234 |
| HLI | rs2230234 |
| Exac | rs2230234 |
| Gnomad | rs2230234 |
| Varsome | rs2230234 |
| LitVar | rs2230234 |
| Map | rs2230234 |
| PheGenI | rs2230234 |
| Biobank | rs2230234 |
| 1000 genomes | rs2230234 |
| hgdp | rs2230234 |
| ensembl | rs2230234 |
| geneview | rs2230234 |
| scholar | rs2230234 |
| rs2230234 | |
| pharmgkb | rs2230234 |
| gwascentral | rs2230234 |
| openSNP | rs2230234 |
| 23andMe | rs2230234 |
| SNPshot | rs2230234 |
| SNPdbe | rs2230234 |
| MSV3d | rs2230234 |
| GWAS Ctlg | rs2230234 |
| GMAF | 0.03857 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs2230234(G;G) rs2230234(T;T) |
| Alt | rs2230234(G;G) rs2230234(T;T) |
| Reference | Rs2230234(A;A) |
| Significance | Probable-Pathogenic |
| Disease | not specified Cardiovascular phenotype Cardiomyopathy Dilated Cardiomyopathy |
| Variation | info |
| Gene | DSG2 |
| CLNDBN | not specified Cardiovascular phenotype Cardiomyopathy, ARVC Dilated Cardiomyopathy, Dominant Cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000018.9:g.29104714A>G; NC_000018.9:g.29104714A>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000037319.5, RCV000254391.1, RCV000260352.1, RCV000371387.1, RCV000029672.3, RCV000212490.1, |
