Disease: Arrhythmogenic Right Ventricular Dysplasia
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs386134243
LMNA
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 16
rs397516955
DSP
0.790 0.120 6 7562753 stop gained G/A snv 9
rs727504443
DSP
0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06 5
rs1554108012
DSP
0.882 0.120 6 7579323 stop gained C/T snv 4
rs1554108152
DSP
0.882 0.120 6 7579922 frameshift variant -/AAATCGA delins 4
rs1554108431
DSP
0.882 0.120 6 7581189 stop gained C/T snv 4
rs397516943
DSP
0.882 0.120 6 7559281 stop gained C/G;T snv 8.0E-06 4
rs1554108287
DSP
0.925 0.080 6 7580495 frameshift variant CACTG/- del 3
rs397517906
LMNA
0.925 0.080 1 156134890 missense variant C/T snv 8.0E-06 3
rs1554105614
DSP
1.000 0.080 6 7555773 stop gained C/T snv 2
rs727503000
DSP
1.000 0.080 6 7579663 frameshift variant -/A delins 2
rs727503001
DSP
1.000 0.080 6 7579820 stop gained T/A snv 2
rs727503003
DSP
1.000 0.080 6 7581012 frameshift variant -/A delins 2
rs794728136
DSP
1.000 0.080 6 7555820 frameshift variant T/- del 2