rs1071646
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1071646(A;A) |
| Make rs1071646(A;C) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 15 |
| Position | 63059641 |
| Gene | TPM1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1071646 |
| dbSNP (classic) | rs1071646 |
| ClinGen | rs1071646 |
| ebi | rs1071646 |
| HLI | rs1071646 |
| Exac | rs1071646 |
| Gnomad | rs1071646 |
| Varsome | rs1071646 |
| LitVar | rs1071646 |
| Map | rs1071646 |
| PheGenI | rs1071646 |
| Biobank | rs1071646 |
| 1000 genomes | rs1071646 |
| hgdp | rs1071646 |
| ensembl | rs1071646 |
| geneview | rs1071646 |
| scholar | rs1071646 |
| rs1071646 | |
| pharmgkb | rs1071646 |
| gwascentral | rs1071646 |
| openSNP | rs1071646 |
| 23andMe | rs1071646 |
| SNPshot | rs1071646 |
| SNPdbe | rs1071646 |
| MSV3d | rs1071646 |
| GWAS Ctlg | rs1071646 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 26400351] Significance of sarcomere gene mutation in patients with dilated cardiomyopathy
| ClinVar | |
|---|---|
| Risk | rs1071646(A;A) |
| Alt | rs1071646(A;A) |
| Reference | Rs1071646(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | not provided not specified Cardiovascular phenotype Dilated Cardiomyopathy Hypertrophic cardiomyopathy |
| Variation | info |
| Gene | TPM1 |
| CLNDBN | not provided not specified Cardiovascular phenotype Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000015.9:g.63351840C>A |
| CLNSRC | Leiden Muscular Dystrophy pages (TPM1) |
| CLNACC | RCV000024584.3, RCV000036332.4, RCV000248314.1, RCV000280647.1, RCV000373427.1, |
