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: rs2076295
rs2076295 		0.882 0.080 6 7562999 intron variant T/G snv 0.46
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.710 1.000 3 2017 2019
dbSNP: rs2076295
rs2076295 		0.882 0.080 6 7562999 intron variant T/G snv 0.46
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		Respiratory Tract Diseases 0.730 1.000 3 2016 2019
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: 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: 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: 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: 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
dbSNP: rs2744375
rs2744375 		6 7554606 intron variant A/T snv 0.16
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.700 1.000 1 2016 2016
dbSNP: rs746877365
rs746877365 		0.882 0.160 6 7579527 stop gained C/G;T snv 4.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 8 2008 2019
dbSNP: rs141026028
rs141026028 		0.925 0.120 6 7583758 stop gained C/A;T snv 4.0E-06; 8.0E-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 5 2011 2017
dbSNP: rs141026028
rs141026028 		0.925 0.120 6 7583758 stop gained C/A;T snv 4.0E-06; 8.0E-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 5 2011 2017
dbSNP: rs397516943
rs397516943 		0.882 0.120 6 7559281 stop gained C/G;T snv 8.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 5 2013 2017
dbSNP: rs746877365
rs746877365 		0.882 0.160 6 7579527 stop gained C/G;T snv 4.0E-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 4 2008 2013
dbSNP: rs746877365
rs746877365 		0.882 0.160 6 7579527 stop gained C/G;T snv 4.0E-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 4 2008 2013
dbSNP: rs1554108012
rs1554108012 		0.882 0.120 6 7579323 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 3 2005 2014
dbSNP: rs1554108012
rs1554108012 		0.882 0.120 6 7579323 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 3 2005 2014
dbSNP: rs397516955
rs397516955 		0.790 0.120 6 7562753 stop gained G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 3 2006 2015
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: 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: 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