rs57965306, 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 219421365 missense variant G/A;C snv 2.8E-05 0.820 1.000 8 2005 2019
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
CUI: C1867005
Disease: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
1 0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05 0.800 0
Mitochondrial pathology
CUI: C3825201
Disease: Mitochondrial pathology
6 0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05 0.010 1.000 1 2016 2016
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05 0.010 1.000 1 2017 2017
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05 0.010 1.000 1 2007 2007
Paresis
CUI: C0030552
Disease: Paresis
49 0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05 0.010 1.000 1 2017 2017