LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517892
rs397517892
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE We resequenced the coding region, flanking intronic, and proximal promoter regions of the lamin a/c gene in 43 women with PCOS with evidence of upper-body obesity (waist circumference >88 cm) and identified 56 variants, two of which were nonsynonymous substitutions (lmna11 exon1 E98D; lmna24 exon 7 R455C). 19401371 2009