rs267607125
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs267607125(C;T) |
| Make rs267607125(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 52453993 |
| Gene | NISCH, TNNC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267607125 |
| dbSNP (classic) | rs267607125 |
| ClinGen | rs267607125 |
| ebi | rs267607125 |
| HLI | rs267607125 |
| Exac | rs267607125 |
| Gnomad | rs267607125 |
| Varsome | rs267607125 |
| LitVar | rs267607125 |
| Map | rs267607125 |
| PheGenI | rs267607125 |
| Biobank | rs267607125 |
| 1000 genomes | rs267607125 |
| hgdp | rs267607125 |
| ensembl | rs267607125 |
| geneview | rs267607125 |
| scholar | rs267607125 |
| rs267607125 | |
| pharmgkb | rs267607125 |
| gwascentral | rs267607125 |
| openSNP | rs267607125 |
| 23andMe | rs267607125 |
| SNPshot | rs267607125 |
| SNPdbe | rs267607125 |
| MSV3d | rs267607125 |
| GWAS Ctlg | rs267607125 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs267607125(T;T) |
| Alt | rs267607125(T;T) |
| Reference | Rs267607125(C;C) |
| Significance | Pathogenic |
| Disease | Familial hypertrophic cardiomyopathy 13 not specified not provided |
| Variation | info |
| Gene | TNNC1 NISCH |
| CLNDBN | Familial hypertrophic cardiomyopathy 13 not specified not provided |
| Reversed | 1 |
| HGVS | NC_000003.11:g.52488009G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013256.23, RCV000037762.3, RCV000159204.2, |
