Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3774937
NFKB1
0.776 0.280 4 102513096 intron variant T/C snv 0.26 5
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 5
rs80338948
GJB2
0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 10
rs74315289
BSND
0.827 0.280 1 54999325 missense variant G/A snv 1.0E-04 1.5E-04 1
rs201650281
KARS1
0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04 6
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 21
rs372466080
MYO15A
0.925 0.120 17 18166434 synonymous variant C/T snv 1.9E-04 1.0E-04 2
rs104894334
LOC101927318 ; AQP2
0.851 0.200 12 49954233 missense variant G/A snv 5.3E-05 7.7E-05 2
rs111033299
GJB2
0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 9
rs111033256
SLC26A4
0.882 0.160 7 107675060 missense variant T/A snv 2.0E-04 3.5E-05 2
rs397514588
OTOGL
0.925 0.120 12 80229341 stop gained C/T snv 3.8E-05 2.8E-05 1
rs781214034
EDNRB ; EDNRB-AS1
0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 8
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs763320093
LMX1A-AS2 ; LMX1A
1.000 0.120 1 165203923 missense variant A/G snv 1.6E-05 1.4E-05 1
rs758723288
ECHS1
0.882 0.120 10 133370686 missense variant G/A snv 1.2E-05 1.4E-05 4
rs1348505504
GIPC3
1.000 0.120 19 3586669 missense variant G/A snv 7.4E-06 1
rs1471362858
EYA4
0.882 0.120 6 133462408 missense variant G/C snv 8.0E-06 7.0E-06 1
rs1131692056
PRKCB
1.000 0.120 16 23988577 missense variant G/T snv 7.0E-06 1
rs1323852277
WFS1
0.925 0.120 4 6301903 missense variant G/A snv 7.0E-06 1
rs28931593
GJB2
0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 4
rs794726869
MARS2
0.925 0.120 2 197705955 stop gained C/T snv 7.0E-06 1
rs771409809
WFS1
0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 19
rs80338827
MYH9
0.882 0.320 22 36305984 missense variant C/T snv 7.0E-06 2
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48