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: rs57629361
rs57629361
LMNA
0.827 0.280 1 156137207 missense variant C/A;G;T snv 9.3E-06
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.800 1.000 11 1991 2014
dbSNP: rs57629361
rs57629361
LMNA
0.827 0.280 1 156137207 missense variant C/A;G;T snv 9.3E-06
CUI: C0033300
Disease: Progeria
Progeria 		0.710 1.000 1 2006 2006
dbSNP: rs57629361
rs57629361
LMNA
0.827 0.280 1 156137207 missense variant C/A;G;T snv 9.3E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 2 2003 2014
dbSNP: rs57629361
rs57629361
LMNA
0.827 0.280 1 156137207 missense variant C/A;G;T snv 9.3E-06
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.700 0
dbSNP: rs57629361
rs57629361
LMNA
0.827 0.280 1 156137207 missense variant C/A;G;T snv 9.3E-06
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		0.010 1.000 1 2012 2012