rs104894730
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 5 | Familial restrictive cardiomyopathy, type 1 |
| (G;G) | 6 | Familial restrictive cardiomyopathy, type 1 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 55154047 |
| Gene | TNNI3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894730 |
| dbSNP (classic) | rs104894730 |
| ClinGen | rs104894730 |
| ebi | rs104894730 |
| HLI | rs104894730 |
| Exac | rs104894730 |
| Gnomad | rs104894730 |
| Varsome | rs104894730 |
| LitVar | rs104894730 |
| Map | rs104894730 |
| PheGenI | rs104894730 |
| Biobank | rs104894730 |
| 1000 genomes | rs104894730 |
| hgdp | rs104894730 |
| ensembl | rs104894730 |
| geneview | rs104894730 |
| scholar | rs104894730 |
| rs104894730 | |
| pharmgkb | rs104894730 |
| gwascentral | rs104894730 |
| openSNP | rs104894730 |
| 23andMe | rs104894730 |
| SNPshot | rs104894730 |
| SNPdbe | rs104894730 |
| MSV3d | rs104894730 |
| GWAS Ctlg | rs104894730 |
| Merged from | Rs28934870 |
| Max Magnitude | 6 |
rs104894730, also known as c.532A>G, p.Lys178Glu and K178E, represents a rare mutation in the TNNI3 gene on chromosome 19.
A single copy of the rare rs104894730(G) allele is reported to lead to familial restrictive cardiomyopathy, type 1. For more information, see OMIM 191044.0007.
This mutation is referred to as i5007733 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs104894730(G;G) |
| Alt | Rs104894730(G;G) |
| Reference | Rs104894730(A;A) |
| Significance | Pathogenic |
| Disease | Familial restrictive cardiomyopathy 1 |
| Variation | info |
| Gene | TNNI3 |
| CLNDBN | Familial restrictive cardiomyopathy 1 |
| Reversed | 1 |
| HGVS | NC_000019.9:g.55665415T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013238.24, |
