Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057156731
rs1057156731
LMNA
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.010 GeneticVariation BEFREE The study involved four subjects with familial partial lipodystrophy who had a novel PPARG mutation (H449L) and six subjects with classic codon 482 LMNA mutations (R482W). 26756202

2016