DES, desmin, 1674

N. diseases: 330; N. variants: 63
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: rs121913003
rs121913003
0.882 0.200 2 219421532 missense variant C/T snv
CUI: C0030552
Disease: Paresis
Paresis
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs57965306
rs57965306
0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05
CUI: C0030552
Disease: Paresis
Paresis
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs59962885
rs59962885
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C0030552
Disease: Paresis
Paresis
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2007 2007