Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 16
rs1233562246
OTOGL
0.925 0.120 12 80255055 frameshift variant T/- del 2
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs1057517491
GJB2
0.776 0.240 13 20189448 frameshift variant C/- delins 8
rs1564494285
RET
0.882 0.200 10 43111219 frameshift variant TG/- delins 6
rs1567498374
KARS1
0.882 0.160 16 75630493 frameshift variant G/-;GG delins 5
rs750188782
GJB2
0.882 0.200 13 20189391 frameshift variant ACACGTTCTTGCAGCC/- delins 1.2E-05 5
rs1569167515
POLR2F ; SOX10
0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins 4
rs1057517695
CEP78
0.882 0.200 9 78241729 frameshift variant T/- delins 3
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 49
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 28
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 22
rs1558939623
CHN1
0.732 0.480 2 174824479 missense variant C/T snv 19
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs771409809
WFS1
0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 19
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 18
rs199474657
TRNL1 ; ND1 ; ND2
0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 15
rs1318358361
ARID1B
0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 13
rs80338948
GJB2
0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 12
rs1135401743
HAAO ; MTA3
0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 11
rs111033299
GJB2
0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 10
rs781214034
EDNRB ; EDNRB-AS1
0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 10