DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
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: rs397516955
rs397516955 		0.790 0.120 6 7562753 stop gained G/A snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 2006 2015
dbSNP: rs777407386
rs777407386 		1.000 0.080 6 7579954 missense variant G/A;C snv 2.0E-05; 1.2E-05
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 2002 2009
dbSNP: rs2076295
rs2076295 		0.882 0.080 6 7562999 intron variant T/G snv 0.46
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 2 2019 2019
dbSNP: rs397516955
rs397516955 		0.790 0.120 6 7562753 stop gained G/A snv
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 2 2006 2014
dbSNP: rs397516955
rs397516955 		0.790 0.120 6 7562753 stop gained G/A snv
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2006 2014
dbSNP: rs869025392
rs869025392 		1.000 0.080 6 7580993 missense variant G/A snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2011 2013
dbSNP: rs876657638
rs876657638 		0.882 0.120 6 7571554 stop gained C/T snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2011 2015
dbSNP: rs886039343
rs886039343 		0.925 0.120 6 7555815 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2010 2014
dbSNP: rs886039343
rs886039343 		0.925 0.120 6 7555815 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 2 2010 2014
dbSNP: rs10484326
rs10484326 		6 7558085 intron variant T/C snv 0.20 0.21
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs121912998
rs121912998 		1.000 0.040 6 7542003 missense variant G/A snv 1.6E-03 1.1E-03
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121912998
rs121912998 		1.000 0.040 6 7542003 missense variant G/A snv 1.6E-03 1.1E-03
CUI: C0011071
Disease: Sudden death
Sudden death 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2016 2016
dbSNP: rs1236464864
rs1236464864 		0.882 0.120 6 7580585 stop gained T/C;G snv 1.4E-05
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1236464864
rs1236464864 		0.882 0.120 6 7580585 stop gained T/C;G snv 1.4E-05
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1358904
rs1358904 		6 7564228 intron variant C/T snv 0.31
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1371251333
rs1371251333 		1.000 0.080 6 7568578 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 2011 2011
dbSNP: rs140474226
rs140474226 		0.882 0.120 6 7580370 stop gained C/T snv
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs140474226
rs140474226 		0.882 0.120 6 7580370 stop gained C/T snv
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs150339369
rs150339369 		1.000 0.080 6 7574781 missense variant C/A;T snv 3.0E-04 2.0E-04
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 2011 2011
dbSNP: rs200745877
rs200745877 		1.000 0.080 6 7580307 missense variant A/G snv 6.8E-05 6.3E-05
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2076295
rs2076295 		0.882 0.080 6 7562999 intron variant T/G snv 0.46
CUI: C0037116
Disease: Silicosis
Silicosis 		Respiratory Tract Diseases; Occupational Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2076295
rs2076295 		0.882 0.080 6 7562999 intron variant T/G snv 0.46
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.800 1.000 1 2013 2013
dbSNP: rs2076304
rs2076304 		1.000 0.080 6 7572029 synonymous variant A/G;T snv 0.76; 4.0E-06
CUI: C0037116
Disease: Silicosis
Silicosis 		Respiratory Tract Diseases; Occupational Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2744371
rs2744371 		0.925 0.080 6 7553941 intron variant A/C;G snv
CUI: C0037116
Disease: Silicosis
Silicosis 		Respiratory Tract Diseases; Occupational Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2744371
rs2744371 		0.925 0.080 6 7553941 intron variant A/C;G snv
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		Respiratory Tract Diseases 0.010 1.000 1 2016 2016