rs150840924, LMNA

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.807 0.240 1 156136359 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 17 1999 2012
Hereditary Motor and Sensory-Neuropathy Type II
144 0.807 0.240 1 156136359 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 5 2003 2014
Progeria
CUI: C0033300
Disease: Progeria
41 0.807 0.240 1 156136359 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 1 2013 2013
Cockayne Syndrome
CUI: C0009207
Disease: Cockayne Syndrome
11 0.807 0.240 1 156136359 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2009 2009
Dermatologic disorders
CUI: C0037274
Disease: Dermatologic disorders
21 0.807 0.240 1 156136359 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2013 2013
Scleroderma
CUI: C0011644
Disease: Scleroderma
5 0.807 0.240 1 156136359 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2009 2009
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
287 0.807 0.240 1 156136359 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2009 2009