Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1405183655
FA2H
16 74719132 missense variant C/G;T snv 4.0E-06 2
rs794728228
FBN1
0.925 0.160 15 48468064 stop gained G/A snv 4
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 37
rs1555358382
GCH1
14 54844115 stop gained G/A snv 6
rs1555206402
HMBS
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 26
rs761051758
HSPB1
0.827 0.160 7 76302805 synonymous variant G/A snv 8.5E-06 7
rs757725417
IMMT
2 86144399 missense variant C/G;T snv 4.0E-06; 4.0E-06 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
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
rs80356616
KCNJ11
0.732 0.360 11 17387917 missense variant C/T snv 19
rs80356624
KCNJ11
0.752 0.240 11 17387490 missense variant C/A;T snv 16
rs61672878
LMNA
0.776 0.200 1 156136094 missense variant G/A;T snv 11
rs142000963
LMNA
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 8
rs57983345
LMNA
0.851 0.160 1 156115034 missense variant A/G snv 6
rs80338800
LOC105370794 ; CAPN3
0.827 0.120 15 42387803 frameshift variant A/- delins 21
rs1555420508
LOC105370794 ; CAPN3
15 42387891 splice region variant G/A snv 3
rs914586984
LOC105371858 ; SCN4A
1.000 0.120 17 63959275 missense variant G/C;T snv 9
rs151344517
LOC107985154 ; AFG3L2 ; TUBB6
0.742 0.320 18 12337505 missense variant C/T snv 31
rs201573646
MAD2L1BP
6 43640526 missense variant G/A snv 1.0E-04 1.4E-05 2
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv 29
rs267607261
MPV17
0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 28