rs45578238
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (AGA;AGA) | 0 | common in clinvar |
| Make rs45578238(-;-) |
| Make rs45578238(-;AGA) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 201361971 |
| Gene | TNNT2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs45578238 |
| dbSNP (classic) | rs45578238 |
| ClinGen | rs45578238 |
| ebi | rs45578238 |
| HLI | rs45578238 |
| Exac | rs45578238 |
| Gnomad | rs45578238 |
| Varsome | rs45578238 |
| LitVar | rs45578238 |
| Map | rs45578238 |
| PheGenI | rs45578238 |
| Biobank | rs45578238 |
| 1000 genomes | rs45578238 |
| hgdp | rs45578238 |
| ensembl | rs45578238 |
| geneview | rs45578238 |
| scholar | rs45578238 |
| rs45578238 | |
| pharmgkb | rs45578238 |
| gwascentral | rs45578238 |
| openSNP | rs45578238 |
| 23andMe | rs45578238 |
| SNPshot | rs45578238 |
| SNPdbe | rs45578238 |
| MSV3d | rs45578238 |
| GWAS Ctlg | rs45578238 |
| Merged from | Rs121964859 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs45578238(AGA;AGA) |
| Significance | Pathogenic |
| Disease | Left ventricular noncompaction 6 Cardiomyopathy Familial hypertrophic cardiomyopathy 2 Primary dilated cardiomyopathy not provided |
| Variation | info |
| Gene | TNNT2 |
| CLNDBN | Left ventricular noncompaction 6 Cardiomyopathy Familial hypertrophic cardiomyopathy 2 Primary dilated cardiomyopathy not provided |
| Reversed | 1 |
| HGVS | NC_000001.10:g.201331099_201331101delTCT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000036607.4, RCV000159333.1, RCV000168972.1, RCV000211868.1, RCV000223828.1, |
