Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs794728228
FBN1
0.925 0.160 15 48468064 stop gained G/A snv 4
rs121908893
SLC22A5
1.000 0.160 5 132385435 stop gained C/A;T snv 5.3E-04; 1.2E-04 3
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins 20
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs387906789
VCP
0.742 0.200 9 35065352 missense variant G/A;C snv 4.0E-06 14
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 13
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 11
rs61672878
LMNA
0.776 0.200 1 156136094 missense variant G/A;T snv 11
rs121434589
MYH2 ; MYHAS
0.851 0.200 17 10535137 missense variant C/T snv 8
rs121913003
DES
0.882 0.200 2 219421532 missense variant C/T snv 6
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs146539065
SEPSECS
0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs776969714
SEPSECS
0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 34
rs80356624
KCNJ11
0.752 0.240 11 17387490 missense variant C/A;T snv 16
rs113994099
POLG
0.827 0.240 15 89320883 missense variant T/C snv 10
rs142000963
LMNA
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 8
rs267607261
MPV17
0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 28
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv 23
rs780631499
AGTPBP1
0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06 23
rs1805123
KCNH2
0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 18
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 17
rs794728448
KCNH2
0.724 0.280 7 150948445 frameshift variant CT/G delins 17
rs121918075
TTR
0.752 0.280 18 31598632 missense variant A/G snv 15
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs151344517
LOC107985154 ; AFG3L2 ; TUBB6
0.742 0.320 18 12337505 missense variant C/T snv 31