rs76992529, TTR

N. diseases: 36
Disease: Transthyretin cardiac amyloidosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Transthyretin cardiac amyloidosis
CUI: C4531196
Disease: Transthyretin cardiac amyloidosis
0.040 GeneticVariation BEFREE This clinical algorithm may be useful for identification of ATTR V122I amyloidosis in elderly African American patients with HF. 28196196 2017
Transthyretin cardiac amyloidosis
CUI: C4531196
Disease: Transthyretin cardiac amyloidosis
0.040 GeneticVariation BEFREE The Val142Ile transthyretin cardiac amyloidosis: not only an Afro-American pathogenic variant? A single-centre Italian experience. 26428663 2016
Transthyretin cardiac amyloidosis
CUI: C4531196
Disease: Transthyretin cardiac amyloidosis
0.040 GeneticVariation BEFREE The most common TTR gene mutation that leads to TTR cardiac amyloidosis is the valine-to-isoleucine substitution at position 122 (V122I or Ile122). 24818650 2014
Transthyretin cardiac amyloidosis
CUI: C4531196
Disease: Transthyretin cardiac amyloidosis
0.040 GeneticVariation BEFREE The first Caucasian patient with p.Val122Ile mutated-transthyretin cardiac amyloidosis treated with isolated heart transplantation. 22449240 2012