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: rs1390387214
rs1390387214 		1.000 0.080 18 31087752 missense variant A/G snv
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 1.000 4 2006 2017
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: rs794728072
rs794728072 		1.000 0.080 18 31071604 splice donor variant C/- del
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 1.000 3 2009 2013
dbSNP: rs1555639134
rs1555639134 		1.000 0.080 18 31083007 stop gained A/C snv
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 1.000 1 2013 2013
dbSNP: rs1789063
rs1789063 		18 31093950 intron variant T/A snv 0.74
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
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: 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
dbSNP: rs1060502989
rs1060502989 		1.000 0.080 18 31086635 frameshift variant -/T delins
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: rs1395367133
rs1395367133 		1.000 0.080 18 31101937 frameshift variant CC/- del 7.0E-06
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: rs1567971476
rs1567971476 		1.000 0.080 18 31068939 stop gained G/T snv
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: 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: rs397514041
rs397514041 		1.000 0.080 18 31080186 frameshift variant G/- del
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: rs397514043
rs397514043 		1.000 18 31074730 frameshift variant C/- del
CUI: C3552311
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR 		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: rs397517408
rs397517408 		1.000 0.080 18 31093617 frameshift variant G/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
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: rs142331975
rs142331975 		1.000 0.080 18 31089462 missense variant G/A snv 4.0E-06
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 1.000 4 2006 2017
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: rs769022411
rs769022411 		1.000 0.080 18 31070776 stop gained G/A snv 4.0E-06
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 1.000 1 2017 2017
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: rs145476705
rs145476705 		0.925 0.080 18 31087781 stop gained A/G;T snv 4.0E-06; 4.0E-06
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: rs746173561
rs746173561 		1.000 0.080 18 31087695 missense variant A/G snv 4.0E-06; 4.0E-06
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: 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