rs267607490, DES

N. diseases: 6
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.
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
48 0.925 0.160 2 219425734 missense variant C/T snv 0.810 1.000 30 1998 2017
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.925 0.160 2 219425734 missense variant C/T snv 0.700 0
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.925 0.160 2 219425734 missense variant C/T snv 0.700 0
Neuromuscular Diseases
CUI: C0027868
Disease: Neuromuscular Diseases
50 0.925 0.160 2 219425734 missense variant C/T snv 0.700 0
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.925 0.160 2 219425734 missense variant C/T snv 0.020 1.000 2 2015 2017
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.925 0.160 2 219425734 missense variant C/T snv 0.010 1.000 1 2010 2010