Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777040
ELMOD3
0.925 0.120 2 85389806 missense variant T/C snv 4.0E-06 2
rs1064797088
GJB2
0.925 0.120 13 20189446 missense variant C/T snv 2
rs776848994
GJB6
1.000 0.120 13 20223480 start lost T/C snv 1.6E-05 4.2E-05 2
rs780320724
GJB6
0.925 0.120 13 20223362 missense variant G/A snv 5.6E-05 2
rs200089613
HARS2
0.925 0.280 5 140698056 missense variant G/A;T snv 8.0E-05; 3.7E-04 2
rs397508115
KCNQ1
0.925 0.200 11 2570683 frameshift variant C/GG delins 2
rs1057519603
LOC105371566 ; MYO15A
0.925 0.120 17 18126856 missense variant T/C snv 2
rs1057519604
LOC105371566 ; MYO15A
0.925 0.120 17 18148937 frameshift variant G/- delins 2
rs752672077
MPZL2
0.925 0.120 11 118263084 frameshift variant T/- del 8.1E-04 6.8E-04 2
rs1057519601
MYO15A
0.925 0.120 17 18171764 frameshift variant G/CCAGGCCCGTGCAGCTC delins 2
rs1057519606
MYO15A
0.925 0.120 17 18159349 splice donor variant T/C snv 2
rs1057519607
MYO15A
0.925 0.120 17 18178843 frameshift variant -/C delins 2
rs878854415
MYO15A ; LOC105371566
0.925 0.120 17 18144495 splice acceptor variant A/G snv 2
rs1283780488
NARS2
0.925 0.200 11 78469304 stop gained -/T delins 2
rs80356593
OTOF
0.925 0.120 2 26477210 stop gained G/A snv 1.7E-04 3.5E-05 2
rs879255246
OTOF
0.925 0.120 2 26484568 missense variant C/G;T snv 4.0E-06 2
rs774056663
PCDH15
0.925 0.200 10 53823256 frameshift variant -/ATAGTATT delins 2.8E-05 2
rs397514599
PNPT1
0.925 0.120 2 55656148 missense variant T/C snv 2
rs1185695012
WHRN
0.925 0.200 9 114403898 missense variant G/A snv 4.0E-06 2
rs397517255
WHRN
0.925 0.200 9 114424483 stop gained G/A snv 2
rs574202455
CCNH ; RASA1
1.000 0.120 5 87353228 missense variant C/T snv 1
rs201294938
COCH ; LOC100506071
1.000 0.120 14 30884617 missense variant A/G snv 8.0E-06 7.0E-06 1
rs754786373
DMXL2
1.000 0.120 15 51471365 missense variant C/T snv 3.6E-05 2.8E-05 1
rs117685390
GJB2
1.000 0.120 13 20193170 upstream gene variant A/G snv 0.16 1
rs749431664
GJB3 ; SMIM12 ; LOC105378642
1.000 0.120 1 34785282 missense variant G/A;C snv 4.0E-06; 4.0E-06 1