Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs57520892
rs57520892
LMNA
0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		0.810 1.000 3 2002 2006
dbSNP: rs57520892
rs57520892
LMNA
0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 1.000 11 2000 2014
dbSNP: rs57520892
rs57520892
LMNA
0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.800 1.000 2 2012 2017
dbSNP: rs57520892
rs57520892
LMNA
0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 10 1999 2015
dbSNP: rs57520892
rs57520892
LMNA
0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.020 1.000 2 2003 2015
dbSNP: rs57520892
rs57520892
LMNA
0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.020 1.000 2 2003 2005
dbSNP: rs57520892
rs57520892
LMNA
0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		0.020 1.000 2 2003 2003
dbSNP: rs57520892
rs57520892
LMNA
0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05
CUI: C0033300
Disease: Progeria
Progeria 		0.010 1.000 1 2006 2006