rs28933405
From SNPedia
					| Orientation | minus | 
| Stabilized | minus | 
| Geno | Mag | Summary | 
|---|---|---|
| (G;G) | 0 | common in complete genomics | 
| (G;T) | 3 | Familial Hypertrophic Cardiomyopathy | 
| (T;T) | 3 | Familial Hypertrophic Cardiomyopathy | 
| Reference | GRCh38 38.1/141 | 
| Chromosome | 2 | 
| Position | 178785999 | 
| Gene | TTN | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs28933405 | 
| dbSNP (classic) | rs28933405 | 
| ClinGen | rs28933405 | 
| ebi | rs28933405 | 
| HLI | rs28933405 | 
| Exac | rs28933405 | 
| Gnomad | rs28933405 | 
| Varsome | rs28933405 | 
| LitVar | rs28933405 | 
| Map | rs28933405 | 
| PheGenI | rs28933405 | 
| Biobank | rs28933405 | 
| 1000 genomes | rs28933405 | 
| hgdp | rs28933405 | 
| ensembl | rs28933405 | 
| geneview | rs28933405 | 
| scholar | rs28933405 | 
| rs28933405 | |
| pharmgkb | rs28933405 | 
| gwascentral | rs28933405 | 
| openSNP | rs28933405 | 
| 23andMe | rs28933405 | 
| SNPshot | rs28933405 | 
| SNPdbe | rs28933405 | 
| MSV3d | rs28933405 | 
| GWAS Ctlg | rs28933405 | 
| Max Magnitude | 3 | 
Familial hypertrophic cardiomyopathy
see also OMIM 188840.0001
| ClinVar | |
|---|---|
| Risk | rs28933405(A;A) Rs28933405(T;T) | 
| Alt | rs28933405(A;A) Rs28933405(T;T) | 
| Reference | Rs28933405(G;G) | 
| Significance | Pathogenic | 
| Disease | Familial hypertrophic cardiomyopathy 9 | 
| Variation | info | 
| Gene | TTN | 
| CLNDBN | Familial hypertrophic cardiomyopathy 9 | 
| Reversed | 1 | 
| HGVS | NC_000002.11:g.179650726C>A | 
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) | 
| CLNACC | RCV000013484.24, | 
