DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 ×
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: rs1060500607
rs1060500607 		1.000 0.080 6 7583006 frameshift variant -/T delins
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 0
dbSNP: rs1060500609
rs1060500609 		1.000 0.080 6 7569185 splice acceptor variant G/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 0
dbSNP: rs1060500610
rs1060500610 		1.000 0.080 6 7581012 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 0
dbSNP: rs1060500613
rs1060500613 		1.000 0.080 6 7571563 frameshift variant G/- delins
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 0
dbSNP: rs1060500618
rs1060500618 		1.000 0.080 6 7575460 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 0
dbSNP: rs1194358112
rs1194358112 		0.925 0.120 6 7584502 stop gained G/C;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 0
dbSNP: rs121912999
rs121912999 		1.000 0.080 6 7585763 missense variant 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 0
dbSNP: rs1249913357
rs1249913357 		1.000 0.080 6 7567367 frameshift variant CT/- delins
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 0
dbSNP: rs1267435790
rs1267435790 		0.925 0.120 6 7570444 stop gained C/G;T snv 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 0
dbSNP: rs1394836623
rs1394836623 		0.925 0.120 6 7581511 frameshift variant AGAG/-;AG delins 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 0
dbSNP: rs1554105911
rs1554105911 		1.000 0.080 6 7559267 frameshift variant C/- delins
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 0
dbSNP: rs1554107839
rs1554107839 		1.000 0.080 6 7577848 frameshift variant AC/- del
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 0
dbSNP: rs1554107916
rs1554107916 		1.000 0.080 6 7578521 frameshift variant -/GGTT delins
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 0
dbSNP: rs1554108050
rs1554108050 		0.925 0.120 6 7579431 stop gained G/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 0
dbSNP: rs1554108152
rs1554108152 		0.882 0.120 6 7579922 frameshift variant -/AAATCGA delins
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 0
dbSNP: rs1554108287
rs1554108287 		0.925 0.080 6 7580495 frameshift variant CACTG/- del
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 0
dbSNP: rs1554108410
rs1554108410 		0.882 0.120 6 7581072 frameshift variant AGGAG/TTCT delins
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 0
dbSNP: rs1554108431
rs1554108431 		0.882 0.120 6 7581189 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 0
dbSNP: rs1554108477
rs1554108477 		0.882 0.120 6 7581459 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 0
dbSNP: rs1554108609
rs1554108609 		0.925 0.120 6 7582719 frameshift variant -/A delins
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 0
dbSNP: rs1554108610
rs1554108610 		1.000 0.080 6 7582722 frameshift variant AGTCCTG/- del
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 0
dbSNP: rs1561680649
rs1561680649 		0.925 0.120 6 7558171 stop gained GT/AA mnv
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 0
dbSNP: rs1561687796
rs1561687796 		0.925 0.120 6 7568448 frameshift variant -/A delins
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 0
dbSNP: rs1561693779
rs1561693779 		0.925 0.120 6 7575355 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 0
dbSNP: rs1561694696
rs1561694696 		0.925 0.120 6 7576388 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 0