rs267607161, TTR

N. diseases: 16
Disease: Peripheral motor neuropathy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Peripheral motor neuropathy
CUI: C0235025
Disease: Peripheral motor neuropathy
0.010 GeneticVariation BEFREE A c.349G>T transversion (p.Ala117Ser) in TTR gene exon 4 was identified in the proband with typical autonomic neuropathy and peripheral motor neuropathy, as well as in his asymptomatic son. 28762097 2018