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: rs121912992
rs121912992
1.000 0.080 6 7565478 missense variant C/G;T snv 1.9E-04
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 3 2013 2017
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: rs121912993
rs121912993
1.000 0.080 6 7565442 missense variant T/G snv
CUI: C1843292
Disease: Skin Fragility-Woolly Hair Syndrome
Skin Fragility-Woolly Hair Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs606231294
rs606231294
1.000 6 7571471 missense variant C/T snv
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
0.800 0
dbSNP: rs606231295
rs606231295
0.925 0.120 6 7570553 missense variant C/T snv
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
0.800 0
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: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.710 1.000 3 2017 2019
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
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
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
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
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
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 1999 2014
dbSNP: rs727504443
rs727504443
0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06
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 1999 2014
dbSNP: rs746877365
rs746877365
0.882 0.160 6 7579527 stop gained C/G;T snv 4.0E-06
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
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: rs1057517903
rs1057517903
0.882 0.120 6 7575294 splice acceptor variant G/C snv
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 2010 2015
dbSNP: rs1057517903
rs1057517903
0.882 0.120 6 7575294 splice acceptor variant G/C snv
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 2010 2015
dbSNP: rs113726158
rs113726158
0.925 0.120 6 7565357 splice acceptor variant A/G;T snv
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 2010 2015
dbSNP: rs113726158
rs113726158
0.925 0.120 6 7565357 splice acceptor variant A/G;T snv
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 2010 2015
dbSNP: rs1554106743
rs1554106743
0.925 0.120 6 7567819 frameshift variant G/- delins
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 2005 2014
dbSNP: rs1554106743
rs1554106743
0.925 0.120 6 7567819 frameshift variant G/- delins
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: rs1554106830
rs1554106830
0.925 0.120 6 7568435 splice acceptor variant A/G snv
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 2010 2015