DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: Neuromuscular Diseases ×
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: rs150974575
rs150974575 		1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		Nervous System Diseases 0.700 1.000 9 2000 2013
dbSNP: rs727504448
rs727504448 		2 219420116 frameshift variant G/- del 7.0E-06
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		Nervous System Diseases 0.700 1.000 5 2000 2012
dbSNP: rs267607495
rs267607495 		2 219418497 missense variant C/T snv
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs267607490
rs267607490 		0.925 0.160 2 219425734 missense variant C/T snv
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		Nervous System Diseases 0.700 0