Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57920071
rs57920071
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.830 GeneticVariation UNIPROT

dbSNP: rs57920071
rs57920071
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		T 0.830 CausalMutation CLINVAR

dbSNP: rs60310264
rs60310264
LMNA
CUI: C0033300
Disease: Progeria
Progeria 		0.820 GeneticVariation UNIPROT

dbSNP: rs60890628
rs60890628
LMNA
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		T 0.810 CausalMutation CLINVAR

dbSNP: rs60890628
rs60890628
LMNA
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		0.810 GeneticVariation UNIPROT

dbSNP: rs60580541
rs60580541
LMNA
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		T 0.810 CausalMutation CLINVAR

dbSNP: rs60580541
rs60580541
LMNA
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		0.810 GeneticVariation UNIPROT

dbSNP: rs58932704
rs58932704
LMNA
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		T 0.810 CausalMutation CLINVAR

dbSNP: rs57520892
rs57520892
LMNA
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		A 0.810 CausalMutation CLINVAR

dbSNP: rs56984562
rs56984562
LMNA
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		G 0.810 CausalMutation CLINVAR

dbSNP: rs28933093
rs28933093
LMNA
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		A 0.810 CausalMutation CLINVAR

dbSNP: rs61282106
rs61282106
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		A 0.800 CausalMutation CLINVAR

dbSNP: rs61214927
rs61214927
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		A 0.800 CausalMutation CLINVAR

dbSNP: rs61214927
rs61214927
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 GeneticVariation UNIPROT

dbSNP: rs60934003
rs60934003
LMNA
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		C 0.800 CausalMutation CLINVAR

dbSNP: rs60890628
rs60890628
LMNA
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.800 GeneticVariation UNIPROT

dbSNP: rs60890628
rs60890628
LMNA
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		T 0.800 CausalMutation CLINVAR

dbSNP: rs60890628
rs60890628
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 GeneticVariation UNIPROT

dbSNP: rs60890628
rs60890628
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		T 0.800 CausalMutation CLINVAR

dbSNP: rs60864230
rs60864230
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		T 0.800 CausalMutation CLINVAR

dbSNP: rs60864230
rs60864230
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 GeneticVariation UNIPROT

dbSNP: rs59981161
rs59981161
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		T 0.800 CausalMutation CLINVAR

dbSNP: rs59981161
rs59981161
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 GeneticVariation UNIPROT

dbSNP: rs58922911
rs58922911
LMNA
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		G 0.800 CausalMutation CLINVAR

dbSNP: rs57830985
rs57830985
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		A 0.800 CausalMutation CLINVAR