DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: CARDIOMYOPATHY, DILATED, 1S ×
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: rs1114167327
rs1114167327 		1.000 0.040 2 219425706 frameshift variant ACGG/- delins
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		Cardiovascular Diseases 0.700 0
dbSNP: rs1114167332
rs1114167332 		1.000 0.040 2 219418955 protein altering variant CAGGTGGAGGTGCTCACTAACCAGCGCG/GCGT delins
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		Cardiovascular Diseases 0.700 0
dbSNP: rs397516695
rs397516695 		0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		Cardiovascular Diseases 0.700 0