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: rs57920071
rs57920071
LMNA
0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.830 1.000 3 2014 2018
dbSNP: rs57920071
rs57920071
LMNA
0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.100 1.000 14 2001 2018
dbSNP: rs57920071
rs57920071
LMNA
0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.020 1.000 2 2013 2018
dbSNP: rs57920071
rs57920071
LMNA
0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.020 1.000 2 2016 2017
dbSNP: rs57920071
rs57920071
LMNA
0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.020 1.000 2 2013 2018
dbSNP: rs57920071
rs57920071
LMNA
0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		0.010 1.000 1 2013 2013
dbSNP: rs57920071
rs57920071
LMNA
0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.010 1.000 1 2005 2005
dbSNP: rs57920071
rs57920071
LMNA
0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.010 1.000 1 2004 2004
dbSNP: rs57920071
rs57920071
LMNA
0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0342208
Disease: Multinodular goiter
Multinodular goiter 		0.010 1.000 1 2007 2007
dbSNP: rs57920071
rs57920071
LMNA
0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0033300
Disease: Progeria
Progeria 		0.010 1.000 1 2011 2011
dbSNP: rs57920071
rs57920071
LMNA
0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome 		0.010 1.000 1 2007 2007