Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1565623439
MYBPC3
11 47333627 frameshift variant TGAAT/- del 1
rs727504265
MYBPC3
0.925 0.080 11 47335166 frameshift variant TG/- delins 7.0E-06 3
rs397516997
PKP2
0.925 0.080 12 32896581 frameshift variant TCTG/- delins 2.8E-05 3
rs1555142963
PKP2
12 32822477 frameshift variant TCCTGCTTCGACTGCCAAAACAT/- delins 1
rs730880717
MYBPC3
11 47335038 splice donor variant TCACGCAGGATCTCCT/- del 1
rs12212067
FOXO3
0.716 0.320 6 108659993 intron variant T/G snv 0.14 20
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 9
rs121909298
SGCD
0.925 0.040 5 156595000 missense variant T/G snv 2.0E-04 1.3E-04 4
rs200484060
DSG2
1.000 18 31536370 missense variant T/G snv 5.6E-05 1.4E-05 4
rs727504273
MYH7
0.925 0.080 14 23431781 missense variant T/G snv 7.0E-06 3
rs4149018
SLCO1B1
1.000 0.080 12 21138627 intron variant T/G snv 4.3E-02 2
rs1060500235
TNNT2
1 201365657 missense variant T/C;G snv 1
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs225014
DIO2
0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39 22
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv 12
rs121918100
TTR
0.827 0.160 18 31595184 missense variant T/C snv 11
rs113994099
POLG
0.827 0.240 15 89320883 missense variant T/C snv 10
rs121918079
TTR
0.790 0.280 18 31595143 missense variant T/C snv 10
rs121912677
LOC101928174 ; ACTC1
1.000 0.080 15 34793326 missense variant T/C snv 2
rs1393142163
CTNNA3
10 67521867 missense variant T/C snv 2
rs760185784
DSC2
18 31089533 missense variant T/C snv 4.0E-06 2
rs202024436
CRYAB
11 111908969 splice acceptor variant T/C snv 3.6E-05 2.1E-05 1
rs121908989
PRKAG2
0.882 0.080 7 151564199 missense variant T/A;C snv 4.0E-06 4
rs202101384
SDHB
0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05 6