DSC2, desmocollin 2, 1824

N. diseases: 81; N. variants: 28
Disease: Arrhythmogenic Right Ventricular Dysplasia ×
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: rs397517408
rs397517408 		1.000 0.080 18 31093617 frameshift variant G/- del
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 2010 2016
dbSNP: rs777688726
rs777688726 		1.000 0.080 18 31082969 missense variant A/G snv 8.0E-06 3.5E-05
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 2019 2019
dbSNP: rs397517404
rs397517404 		0.925 0.080 18 31086694 missense variant G/A;T snv 1.6E-05
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs397517406
rs397517406 		1.000 0.080 18 31086672 stop gained G/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 1 2006 2006
dbSNP: rs145476705
rs145476705 		0.925 0.080 18 31087781 stop gained A/G;T snv 4.0E-06; 4.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs377272752
rs377272752 		1.000 0.080 18 31069032 inframe deletion CCT/- delins 5.2E-04
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs397517393
rs397517393 		1.000 0.080 18 31093558 splice donor variant C/T snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs373305929
rs373305929 		1.000 0.080 18 31092128 missense variant T/C snv 3.6E-05 1.4E-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 2011 2011
dbSNP: rs377700521
rs377700521 		1.000 0.080 18 31068956 missense variant C/T snv 8.0E-06
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 2019 2019
dbSNP: rs876657787
rs876657787 		1.000 0.080 18 31089485 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 2012 2012