Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs772862268
GJB6
1.000 0.120 13 20223159 stop gained G/A snv 1.2E-05 2.8E-05 1
rs370564476
GRAP
1.000 0.120 17 19024372 missense variant T/A snv 4.0E-06 1.4E-05 1
rs200089613
HARS2
0.925 0.280 5 140698056 missense variant G/A;T snv 8.0E-05; 3.7E-04 2
rs765136820
ILDR1
1.000 0.120 3 122001823 missense variant C/G snv 1.1E-04 2.8E-05 1
rs1244688796
KCNE1
0.925 0.200 21 34449584 stop gained C/T snv 4.0E-06 3
rs779124360
KCNE1
0.925 0.200 21 34449585 stop gained C/T snv 4.0E-06 3
rs1465957812
KCNMA1
1.000 0.120 10 77084649 missense variant G/A snv 1
rs397508115
KCNQ1
0.925 0.200 11 2570683 frameshift variant C/GG delins 2
rs76737438
KCNQ1
1.000 0.120 11 2570686 missense variant G/C snv 1
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
rs144964568
LOC105378642 ; SMIM12 ; GJB3
1.000 0.120 1 34785465 stop gained C/T snv 2.0E-05 1.4E-05 1
rs778568636
LOXHD1
1.000 0.120 18 46505856 missense variant C/A snv 6.4E-06 1
rs752672077
MPZL2
0.925 0.120 11 118263084 frameshift variant T/- del 8.1E-04 6.8E-04 2
rs756215789
MPZL2
1.000 0.120 11 118263084 missense variant T/C snv 4.0E-06 1
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
rs121912557
MYO6
0.882 0.120 6 75857198 missense variant G/A snv 4
rs199606180
MYO7A
0.882 0.200 11 77206120 missense variant C/T snv 1.2E-05 2.1E-05 3
rs759504704
NARS2
0.882 0.200 11 78436786 missense variant C/A;T snv 4.0E-06; 4.0E-06 4
rs565224393
NARS2
0.882 0.200 11 78469304 stop gained A/C;G;T snv 4.0E-06; 4.0E-06 3
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