Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs539821357
rs539821357
DSG2 ; DSG2-AS1
1.000 0.080 18 31546425 stop gained C/A;T snv 6.8E-05; 1.2E-05
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 1.000 3 2010 2013
dbSNP: rs794728084
rs794728084
DSG2 ; DSG2-AS1
1.000 0.080 18 31546308 frameshift variant G/- delins
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 1.000 3 2010 2013
dbSNP: rs1555671331
rs1555671331
DSG2
1.000 0.080 18 31522180 stop gained TCCTCC/- del
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 1.000 2 2006 2010
dbSNP: rs1568098570
rs1568098570
DSG2
1.000 0.080 18 31498297 splice donor variant G/A snv
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 1.000 2 2013 2013
dbSNP: rs869025388
rs869025388
DSG2
1.000 0.080 18 31524549 missense variant T/A snv 7.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 2 2010 2011
dbSNP: rs1039633976
rs1039633976
DSG2
1.000 0.080 18 31538922 frameshift variant -/G delins 7.0E-06
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0
dbSNP: rs1064794709
rs1064794709
DSG2 ; DSG2-AS1
1.000 0.040 18 31546340 frameshift variant T/- delins
CUI: C2752072
Disease: Cardiomyopathy, Dilated, 1BB
Cardiomyopathy, Dilated, 1BB 		0.700 0
dbSNP: rs121913007
rs121913007
DSG2
1.000 0.080 18 31524792 stop gained G/A snv
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0
dbSNP: rs121913009
rs121913009
DSG2
1.000 0.080 18 31536298 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.800 1.000 0 2006 2017
dbSNP: rs121913011
rs121913011
DSG2
1.000 0.080 18 31524554 missense variant A/G snv 4.0E-06
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0
dbSNP: rs1555671441
rs1555671441
DSG2
1.000 0.080 18 31524447 splice acceptor variant G/A snv
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0
dbSNP: rs1568105371
rs1568105371
DSG2
1.000 0.080 18 31521228 frameshift variant TGAGT/- delins
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0
dbSNP: rs373542380
rs373542380
DSG2
1.000 0.080 18 31521111 missense variant G/A;T snv 1.2E-05; 8.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs397516712
rs397516712
DSG2
1.000 0.080 18 31524815 stop gained C/A snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs730880347
rs730880347
DSG2
1.000 0.080 18 31536264 frameshift variant -/G delins
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0
dbSNP: rs750176752
rs750176752
DSG2
1.000 0.080 18 31522250 splice donor variant G/A snv 1.2E-05
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0
dbSNP: rs752432726
rs752432726
DSG2
1.000 0.080 18 31524754 missense variant A/C;G snv 8.0E-06; 2.0E-05
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs781532110
rs781532110
DSG2
1.000 0.080 18 31521213 frameshift variant -/T delins 2.1E-05
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0
dbSNP: rs786204291
rs786204291
DSG2
1.000 0.040 18 31522152 missense variant A/C;G snv 4.0E-06; 1.6E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs794728086
rs794728086
DSG2
1.000 0.080 18 31538849 stop gained C/T snv 7.0E-06
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0
dbSNP: rs794728091
rs794728091
DSG2
1.000 0.080 18 31521184 frameshift variant -/T ins 4.0E-06
CUI: C1857777
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 		0.700 0