rs28940578, MEFV

N. diseases: 16
Disease: Amyloidosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.020 GeneticVariation BEFREE The M694I/M694I genotype, identified in 14/27 (52%) patients, was significantly associated with the development of amyloidosis compared to group of controls (p = 0.022). 27956278 2017
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.020 GeneticVariation BEFREE The genotype-phenotype analysis showed a significant association (P < 0.001) between amyloidosis and the presence of mutations at codon 694 in exon 10 (both M694V and M694I). 11175300 2001