Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs776969714
SEPSECS
0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 34
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33
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
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv 29
rs1555206402
HMBS
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 26
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv 23
rs80338800
LOC105370794 ; CAPN3
0.827 0.120 15 42387803 frameshift variant A/- delins 21
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins 20
rs80356616
KCNJ11
0.732 0.360 11 17387917 missense variant C/T snv 19
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 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
rs80356624
KCNJ11
0.752 0.240 11 17387490 missense variant C/A;T snv 16
rs121912443
SOD1
0.732 0.160 21 31663857 missense variant A/G snv 15
rs121918075
TTR
0.752 0.280 18 31598632 missense variant A/G snv 15
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 13
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins 12
rs1217391623
SPG7
0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 11
rs61672878
LMNA
0.776 0.200 1 156136094 missense variant G/A;T snv 11
rs80338957
SCN4A
0.776 0.160 17 63957427 missense variant G/A snv 11