Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746481995
rs746481995
HSD11B1 ; HSD11B1-AS1
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial 		0.010 GeneticVariation BEFREE We examined how point mutations associated with hereditary amyloidosis (F71Y and L170P) or atherosclerosis (L159R) influence the local apoA-I conformation in model lipoproteins. 30004693

2018