rs59962885, DES

N. diseases: 11
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 0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 0.800 1.000 1 2014 2014
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 0.710 1.000 1 2007 2007
Abnormal palate morphology
CUI: C4021815
Disease: Abnormal palate morphology
2 0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 0.700 0
CARDIOMYOPATHY, DILATED, 1I
CUI: C1858154
Disease: CARDIOMYOPATHY, DILATED, 1I
3 0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 0.700 0
Left Bundle-Branch Block
CUI: C0023211
Disease: Left Bundle-Branch Block
1 0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 0.700 0
Lordosis
CUI: C0024003
Disease: Lordosis
15 0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 0.700 0
Paroxysmal supraventricular tachycardia
CUI: C0030590
Disease: Paroxysmal supraventricular tachycardia
1 0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 0.700 0
Transitional atrioventricular canal defect
CUI: C4023289
Disease: Transitional atrioventricular canal defect
1 0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 0.700 0
Disorder of skeletal muscle
CUI: C1533847
Disease: Disorder of skeletal muscle
10 0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 0.010 1.000 1 1998 1998
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 0.010 1.000 1 2008 2008
Paresis
CUI: C0030552
Disease: Paresis
49 0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 0.010 1.000 1 2007 2007