rs4523540
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs4523540(A;A) |
| Make rs4523540(A;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 201359639 |
| Gene | TNNT2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4523540 |
| dbSNP (classic) | rs4523540 |
| ClinGen | rs4523540 |
| ebi | rs4523540 |
| HLI | rs4523540 |
| Exac | rs4523540 |
| Gnomad | rs4523540 |
| Varsome | rs4523540 |
| LitVar | rs4523540 |
| Map | rs4523540 |
| PheGenI | rs4523540 |
| Biobank | rs4523540 |
| 1000 genomes | rs4523540 |
| hgdp | rs4523540 |
| ensembl | rs4523540 |
| geneview | rs4523540 |
| scholar | rs4523540 |
| rs4523540 | |
| pharmgkb | rs4523540 |
| gwascentral | rs4523540 |
| openSNP | rs4523540 |
| 23andMe | rs4523540 |
| SNPshot | rs4523540 |
| SNPdbe | rs4523540 |
| MSV3d | rs4523540 |
| GWAS Ctlg | rs4523540 |
| Max Magnitude | 0 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs4523540(A;A) rs4523540(C;C) |
| Alt | rs4523540(A;A) rs4523540(C;C) |
| Reference | Rs4523540(T;T) |
| Significance | Probable-Pathogenic |
| Disease | not specified Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 |
| Variation | info |
| Gene | TNNT2 |
| CLNDBN | not specified Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.201328767T>A; NC_000001.10:g.201328767T>C |
| CLNSRC | |
| CLNACC | RCV000159345.1, RCV000474789.1, |
