rs200754249
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs200754249(A;A) |
| Make rs200754249(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 201368212 |
| Gene | TNNT2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200754249 |
| dbSNP (classic) | rs200754249 |
| ClinGen | rs200754249 |
| ebi | rs200754249 |
| HLI | rs200754249 |
| Exac | rs200754249 |
| Gnomad | rs200754249 |
| Varsome | rs200754249 |
| LitVar | rs200754249 |
| Map | rs200754249 |
| PheGenI | rs200754249 |
| Biobank | rs200754249 |
| 1000 genomes | rs200754249 |
| hgdp | rs200754249 |
| ensembl | rs200754249 |
| geneview | rs200754249 |
| scholar | rs200754249 |
| rs200754249 | |
| pharmgkb | rs200754249 |
| gwascentral | rs200754249 |
| openSNP | rs200754249 |
| 23andMe | rs200754249 |
| SNPshot | rs200754249 |
| SNPdbe | rs200754249 |
| MSV3d | rs200754249 |
| GWAS Ctlg | rs200754249 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200754249(A;A) rs200754249(T;T) |
| Alt | rs200754249(A;A) rs200754249(T;T) |
| Reference | Rs200754249(G;G) |
| Significance | Other |
| Disease | not specified Increased left ventricular wall thickness Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 |
| Variation | info |
| Gene | TNNT2 |
| CLNDBN | not specified Increased left ventricular wall thickness Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.201337340G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000036624.7, RCV000148900.1, RCV000149450.1, RCV000456645.1, |
