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: 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: 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: 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
dbSNP: rs28763958
rs28763958 		0.882 0.080 6 7558186 missense variant A/G snv 6.4E-05 2.8E-05
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs28763958
rs28763958 		0.882 0.080 6 7558186 missense variant A/G snv 6.4E-05 2.8E-05
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs28763958
rs28763958 		0.882 0.080 6 7558186 missense variant A/G snv 6.4E-05 2.8E-05
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: rs749422119
rs749422119 		1.000 0.080 6 7568548 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs756481791
rs756481791 		1.000 0.080 6 7582774 missense variant C/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 2012 2012
dbSNP: rs761051181
rs761051181 		1.000 0.080 6 7569259 missense variant C/T snv 1.6E-05
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs761331634
rs761331634 		1.000 0.080 6 7579740 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs780274878
rs780274878 		1.000 0.040 6 7583428 missense variant G/C snv 4.0E-06
CUI: C0022579
Disease: Keratoderma
Keratoderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs780626687
rs780626687 		0.925 0.080 6 7567376 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs780626687
rs780626687 		0.925 0.080 6 7567376 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C4721530
Disease: Congenital hypotrichia
Congenital hypotrichia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
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: rs34738426
rs34738426 		1.000 0.080 6 7581514 missense variant G/T snv 6.8E-05 3.5E-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 6 2002 2017
dbSNP: rs727504443
rs727504443 		0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 6 1999 2014
dbSNP: rs727504443
rs727504443 		0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 6 1999 2014
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: rs727504443
rs727504443 		0.851 0.120 6 7565521 splice donor variant G/A snv 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 4 1999 2014