Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs113994099
POLG
0.827 0.240 15 89320883 missense variant T/C snv 10
rs1805123
KCNH2
0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 18
rs118192170
RYR1
0.882 0.120 19 38584989 missense variant T/A;C snv 6
rs1057518958
CHRND
1.000 0.040 2 232531353 frameshift variant T/- del 4
rs1555206402
HMBS
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 26
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins 12
rs28937581
DYSF
0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05 9
rs1057518957
CHRND
1.000 0.040 2 232535143 missense variant G/T snv 4
rs914586984
LOC105371858 ; SCN4A
1.000 0.120 17 63959275 missense variant G/C;T snv 9
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs760361706
PPARA
22 46235326 missense variant G/C snv 4.0E-06 4
rs61672878
LMNA
0.776 0.200 1 156136094 missense variant G/A;T snv 11
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 58
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 11
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 70
rs387906789
VCP
0.742 0.200 9 35065352 missense variant G/A;C snv 4.0E-06 14
rs57965306
DES
0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05 6
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv 29
rs80338957
SCN4A
0.776 0.160 17 63957427 missense variant G/A snv 11
rs137853305
TPM2
0.851 0.120 9 35685529 missense variant G/A snv 7
rs761051758
HSPB1
0.827 0.160 7 76302805 synonymous variant G/A snv 8.5E-06 7
rs1555358382
GCH1
14 54844115 stop gained G/A snv 6