Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57520892
rs57520892
LMNA
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		0.020 GeneticVariation BEFREE Recently, affected patients from five consanguineous Italian pedigrees with partial lipodystrophy (type A) were reported to have a homozygous R527H mutation in LMNA (lamin A/C) gene. 12788894

2003
dbSNP: rs57520892
rs57520892
LMNA
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		0.020 GeneticVariation BEFREE A homozygous missense mutation, Arg527His, in the LMNA gene which encodes nuclear lamina proteins lamins A and C has been reported in patients with MAD and partial lipodystrophy. 12913070

2003