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: rs59962885
rs59962885 		0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		0.700 0
dbSNP: rs201945924
rs201945924 		1.000 0.080 2 219420332 missense variant A/G snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs267607499
rs267607499 		0.851 0.160 2 219418809 missense variant A/G;T snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs41272699
rs41272699 		0.925 0.160 2 219420154 missense variant C/T snv 9.2E-03 1.0E-02
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs1400593451
rs1400593451 		1.000 0.080 2 219418827 missense variant A/G;T snv 5.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs397516694
rs397516694 		1.000 0.080 2 219418842 missense variant G/C snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs759320891
rs759320891 		1.000 0.080 2 219420915 stop gained C/A;T snv 4.0E-06; 4.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs121913003
rs121913003 		0.882 0.200 2 219421532 missense variant C/T snv
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1553603732
rs1553603732 		1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		Eye Diseases 0.700 0
dbSNP: rs1432061016
rs1432061016 		2 219421446 missense variant T/C snv
CUI: C0741933
Disease: cardiac symptom
cardiac symptom 		0.010 1.000 1 2008 2008
dbSNP: rs121913002
rs121913002 		0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.020 1.000 2 2003 2008
dbSNP: rs267607486
rs267607486 		1.000 0.160 2 219420346 missense variant G/A;C snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs267607490
rs267607490 		0.925 0.160 2 219425734 missense variant C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs150974575
rs150974575 		1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 9 2000 2013
dbSNP: rs267607483
rs267607483 		1.000 0.160 2 219420349 splice region variant A/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 7 2000 2013
dbSNP: rs727504448
rs727504448 		2 219420116 frameshift variant G/- del 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 5 2000 2012
dbSNP: rs62636495
rs62636495 		0.925 0.200 2 219418500 missense variant C/A;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 4 2007 2009
dbSNP: rs121913002
rs121913002 		0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.020 1.000 2 2001 2008
dbSNP: rs1368507241
rs1368507241 		1.000 0.040 2 219420613 missense variant C/T snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs267607495
rs267607495 		2 219418497 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs397516695
rs397516695 		0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs267607490
rs267607490 		0.925 0.160 2 219425734 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs121913002
rs121913002 		0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04
CUI: C1858154
Disease: CARDIOMYOPATHY, DILATED, 1I
CARDIOMYOPATHY, DILATED, 1I 		Cardiovascular Diseases 0.700 1.000 3 1999 2016
dbSNP: rs397516695
rs397516695 		0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05
CUI: C1858154
Disease: CARDIOMYOPATHY, DILATED, 1I
CARDIOMYOPATHY, DILATED, 1I 		Cardiovascular Diseases 0.700 1.000 3 1999 2016
dbSNP: rs59962885
rs59962885 		0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C1858154
Disease: CARDIOMYOPATHY, DILATED, 1I
CARDIOMYOPATHY, DILATED, 1I 		Cardiovascular Diseases 0.700 0