Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555631390
rs1555631390
TTR
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		GTGAGTC 0.700 CausalMutation CLINVAR Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease. 29941560

2018