Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76992529
rs76992529
TTR
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
dbSNP: rs76992529
rs76992529
TTR
0.040 GeneticVariation BEFREE The Val142Ile transthyretin cardiac amyloidosis: not only an Afro-American pathogenic variant? A single-centre Italian experience. 26428663

2016
dbSNP: rs76992529
rs76992529
TTR
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
dbSNP: rs76992529
rs76992529
TTR
0.040 GeneticVariation BEFREE The first Caucasian patient with p.Val122Ile mutated-transthyretin cardiac amyloidosis treated with isolated heart transplantation. 22449240

2012
dbSNP: rs370579379
rs370579379
RBP4 ; FFAR4
0.010 GeneticVariation BEFREE This clinical algorithm may be useful for identification of ATTR V122I amyloidosis in elderly African American patients with HF. 28196196

2017