rs267607127
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 6 | Familial hypertrophic cardiomyopathy, type 7 |
| (A;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 55151860 |
| Gene | TNNI3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267607127 |
| dbSNP (classic) | rs267607127 |
| ClinGen | rs267607127 |
| ebi | rs267607127 |
| HLI | rs267607127 |
| Exac | rs267607127 |
| Gnomad | rs267607127 |
| Varsome | rs267607127 |
| LitVar | rs267607127 |
| Map | rs267607127 |
| PheGenI | rs267607127 |
| Biobank | rs267607127 |
| 1000 genomes | rs267607127 |
| hgdp | rs267607127 |
| ensembl | rs267607127 |
| geneview | rs267607127 |
| scholar | rs267607127 |
| rs267607127 | |
| pharmgkb | rs267607127 |
| gwascentral | rs267607127 |
| openSNP | rs267607127 |
| 23andMe | rs267607127 |
| SNPshot | rs267607127 |
| SNPdbe | rs267607127 |
| MSV3d | rs267607127 |
| GWAS Ctlg | rs267607127 |
| Max Magnitude | 6.2 |
rs267607127, also known as c.607G>A, p.Gly203Ser and G203S, represents a rare mutation in the TNNI3 gene on chromosome 19.
A single copy of the rare rs267607127(A) allele is reported to lead to familial hypertrophic cardiomyopathy, type 7. For more information, see OMIM 191044.0014.
This mutation is referred to as i5007738 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs267607127(A;A) |
| Alt | Rs267607127(A;A) |
| Reference | Rs267607127(G;G) |
| Significance | Pathogenic |
| Disease | Familial hypertrophic cardiomyopathy 7 |
| Variation | info |
| Gene | TNNI3 |
| CLNDBN | Familial hypertrophic cardiomyopathy 7 |
| Reversed | 1 |
| HGVS | NC_000019.9:g.55663228C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013245.24, |
