Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878852983
rs878852983
LEMD2
CUI: C0220721
Disease: CATARACT 46, JUVENILE-ONSET
CATARACT 46, JUVENILE-ONSET 		0.800 GeneticVariation UNIPROT Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. 26788539

2016