DSC2, desmocollin 2, 1824

N. diseases: 81; N. variants: 28
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: rs796756333
rs796756333 		1.000 0.080 18 31083061 splice acceptor variant C/T snv 2.1E-05
CUI: C1864850
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs878853170
rs878853170 		1.000 18 31079850 stop gained G/A snv 4.0E-06
CUI: C4310975
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA 		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: rs397517404
rs397517404 		0.925 0.080 18 31086694 missense variant G/A;T snv 1.6E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs760185784
rs760185784 		18 31089533 missense variant T/C snv 4.0E-06
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs760185784
rs760185784 		18 31089533 missense variant T/C snv 4.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
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