DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: CARDIOMYOPATHY, DILATED, 1I ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913002
rs121913002 		0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04
CUI: C1858154
Disease: CARDIOMYOPATHY, DILATED, 1I
CARDIOMYOPATHY, DILATED, 1I 		Cardiovascular Diseases 0.700 1.000 3 1999 2016
dbSNP: rs397516695
rs397516695 		0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05
CUI: C1858154
Disease: CARDIOMYOPATHY, DILATED, 1I
CARDIOMYOPATHY, DILATED, 1I 		Cardiovascular Diseases 0.700 1.000 3 1999 2016
dbSNP: rs59962885
rs59962885 		0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C1858154
Disease: CARDIOMYOPATHY, DILATED, 1I
CARDIOMYOPATHY, DILATED, 1I 		Cardiovascular Diseases 0.700 0