Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 30
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 21
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
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 16
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs199474657
TRNL1 ; ND1 ; ND2
0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 15
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 11
rs1135401743
HAAO ; MTA3
0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 11
rs80338948
GJB2
0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 10
rs80358284
PRSS23 ; FZD4
0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 10
rs111033299
GJB2
0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 9
rs281874674
COL4A5
0.827 0.280 X 108597479 missense variant G/C;T snv 8
rs1566304640
EDNRB-AS1 ; EDNRB
0.827 0.280 13 77900593 missense variant G/A snv 8
rs781214034
EDNRB ; EDNRB-AS1
0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 8
rs1555661648
AQP4 ; AQP4-AS1
0.882 0.240 18 26862297 missense variant C/G snv 6
rs200455852
ASAH1
0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05 6
rs201650281
KARS1
0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04 6
rs111033437
MYO7A
0.882 0.120 11 77179925 missense variant G/A;T snv 6
rs1564494285
RET
0.882 0.200 10 43111219 frameshift variant TG/- delins 6
rs796053353
STXBP1
0.882 0.120 9 127661192 missense variant C/T snv 6