Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs764817683
rs764817683
PKP2
1 12 32821488 frameshift variant G/- delins 0.700 1.000 10 2006 2017
dbSNP: rs397516989
rs397516989
PKP2
3 0.925 0.080 12 32850932 frameshift variant -/A delins 0.700 1.000 5 2006 2017
dbSNP: rs121434420
rs121434420
PKP2
5 0.851 0.120 12 32879021 stop gained G/A snv 4.0E-06 4.9E-05 0.700 1.000 3 2008 2014
dbSNP: rs372949028
rs372949028
TANGO2
13 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs397516996
rs397516996
PKP2
2 1.000 0.080 12 32896718 frameshift variant C/- delins 0.700 1.000 1 2015 2015
dbSNP: rs752298579
rs752298579
TANGO2
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs879253730
rs879253730
SCN3B
2 11 123642468 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057518920
rs1057518920
DSP
5 0.925 0.080 6 7575386 stop gained C/A snv 0.700 0
dbSNP: rs1057518968
rs1057518968
DTNA
2 1.000 0.040 18 34794065 missense variant A/G snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs1057519946
rs1057519946
PPP2R1A
18 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 0
dbSNP: rs1060501439
rs1060501439
MYH7
4 0.925 0.080 14 23424938 missense variant T/A snv 0.700 0
dbSNP: rs1331463984
rs1331463984
TRAF7
33 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
dbSNP: rs1553265736
rs1553265736
LMNA
4 0.925 0.040 1 156136080 missense variant G/C snv 0.700 0
dbSNP: rs1553704183
rs1553704183
SCN5A
1 3 38603989 frameshift variant C/- delins 0.700 0
dbSNP: rs1555421871
rs1555421871
CAPN3
6 0.882 0.120 15 42399617 frameshift variant G/- delins 0.700 0
dbSNP: rs193922615
rs193922615
CACNA1C ; CACNA1C-AS1
1 12 2688693 missense variant G/A;T snv 4.1E-06; 1.2E-05 0.700 0
dbSNP: rs193922616
rs193922616
CACNA1C ; CACNA1C-AS1
1 12 2691089 missense variant G/A;T snv 8.2E-06 0.700 0
dbSNP: rs193922622
rs193922622
RYR2
1 1 237808916 missense variant G/A snv 0.700 0
dbSNP: rs193922625
rs193922625
RYR2
1 1 237590872 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs193922637
rs193922637
ANK2
1 4 113356784 missense variant G/A snv 4.0E-05 7.0E-05 0.700 0
dbSNP: rs193922728
rs193922728
SCN1B
1 19 35034042 missense variant G/A snv 6.5E-06 0.700 0
dbSNP: rs199472720
rs199472720
KCNQ1
3 0.925 0.120 11 2572105 missense variant G/A;T snv 1.6E-05 0.700 0
dbSNP: rs199472842
rs199472842
KCNH2
3 0.925 0.120 7 150974861 missense variant C/G;T snv 0.700 0
dbSNP: rs397516915
rs397516915
DSP
6 0.925 0.080 6 7568443 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs760187215
rs760187215
MYH7
6 1.000 0.040 14 23431859 missense variant C/T snv 8.0E-06 0.700 0