rs397516354, TNNI3

N. diseases: 8
Disease: Asymmetric Septal Hypertrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Asymmetric Septal Hypertrophy
CUI: C0205700
Disease: Asymmetric Septal Hypertrophy
0.010 GeneticVariation BEFREE The R162Q mutation was observed in a ASH++ patient with mean septal thickness of 29 mm, and have also consists of allelic heterogeneity by means of having one more synonymous (E179E) mutation at g.4797: G → A: in the same exon 7, which replaces a very frequent codon (GAG: 85%) with a rare codon (GAA: 14%). 22876777 2012