Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs80338800
LOC105370794 ; CAPN3
0.827 0.120 15 42387803 frameshift variant A/- delins 21
rs774277300
MRE11
0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 17
rs1057519946
PPP2R1A
0.732 0.280 19 52212729 missense variant C/G;T snv 17
rs372949028
TANGO2
0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 13
rs1555421871
CAPN3
0.882 0.120 15 42399617 frameshift variant G/- delins 6
rs397516915
DSP
0.925 0.080 6 7568443 stop gained C/T snv 4.0E-06 6
rs760187215
MYH7
1.000 0.040 14 23431859 missense variant C/T snv 8.0E-06 6
rs1057518920
DSP
0.925 0.080 6 7575386 stop gained C/A snv 5
rs1553265736
LMNA
0.925 0.040 1 156136080 missense variant G/C snv 4
rs1060501439
MYH7
0.925 0.080 14 23424938 missense variant T/A snv 4
rs199472720
KCNQ1
0.925 0.120 11 2572105 missense variant G/A;T snv 1.6E-05 3
rs121434420
PKP2
0.851 0.120 12 32879021 stop gained G/A snv 4.0E-06 4.9E-05 3
rs397516989
PKP2
0.925 0.080 12 32850932 frameshift variant -/A delins 3
rs1057518968
DTNA
1.000 0.040 18 34794065 missense variant A/G snv 8.0E-06 2.1E-05 2
rs397516996
PKP2
1.000 0.080 12 32896718 frameshift variant C/- delins 2
rs879253730
SCN3B
11 123642468 missense variant G/C snv 2
rs193922637
ANK2
4 113356784 missense variant G/A snv 4.0E-05 7.0E-05 1
rs193922615
CACNA1C-AS1 ; CACNA1C
12 2688693 missense variant G/A;T snv 4.1E-06; 1.2E-05 1
rs193922616
CACNA1C ; CACNA1C-AS1
12 2691089 missense variant G/A;T snv 8.2E-06 1
rs199472842
KCNH2
0.925 0.120 7 150974861 missense variant C/G;T snv 1
rs764817683
PKP2
12 32821488 frameshift variant G/- delins 1
rs193922622
RYR2
1 237808916 missense variant G/A snv 1
rs193922625
RYR2
1 237590872 missense variant T/C;G snv 4.0E-06 1