Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs111033405
OTOF
0.851 0.160 2 26465753 missense variant A/G snv 4.0E-05 2.1E-05 4
rs201326023
OTOF
0.882 0.120 2 26458218 missense variant C/T snv 4.3E-05 1.4E-05 4
rs199766465
OTOF
0.882 0.120 2 26463969 missense variant C/G;T snv 5.1E-04 3
rs80356605
OTOF
0.882 0.120 2 26460203 missense variant C/G;T snv 4.4E-06; 6.1E-05 3
rs1207102900
OTOF
1.000 0.120 2 26460027 stop lost A/G snv 2
rs1403112959
OTOF
1.000 0.120 2 26482563 stop gained A/T snv 2
rs147321712
OTOF
1.000 0.120 2 26466731 stop gained G/A;T snv 2.3E-04 2
rs1553353527
OTOF
1.000 0.120 2 26479601 frameshift variant CCGAGGCCGCTGGGGCCGGG/- delins 2
rs1553356452
OTOF
1.000 0.120 2 26494937 splice region variant C/T snv 2
rs1558464965
OTOF
1.000 0.120 2 26460746 missense variant C/A snv 2
rs1558482554
OTOF
1.000 0.120 2 26475916 stop gained C/A snv 2
rs1558488902
OTOF
1.000 0.120 2 26480211 missense variant A/T snv 2
rs1558489384
OTOF
1.000 0.120 2 26480788 stop gained C/A snv 2
rs397515435
OTOF
1.000 0.120 2 26480968 missense variant C/T snv 8.0E-06 7.0E-06 2
rs397515582
OTOF
0.925 0.120 2 26483581 stop gained G/A snv 8.0E-06 7.0E-06 2
rs397515601
OTOF
1.000 0.120 2 26467364 splice donor variant C/A snv 8.0E-06 8.4E-05 2
rs530821443
OTOF
1.000 0.120 2 26458219 missense variant G/A snv 5.5E-06 2
rs753580324
OTOF
1.000 0.120 2 26461763 stop gained G/A;C snv 4.4E-05 2
rs766819324
OTOF
0.925 0.120 2 26474609 stop gained G/C snv 4.0E-06 2
rs80356590
OTOF
1.000 0.120 2 26479356 stop gained G/A;T snv 3.6E-05; 2.4E-05 2
rs80356593
OTOF
0.925 0.120 2 26477210 stop gained G/A snv 1.7E-04 3.5E-05 2
rs1060499805
OTOF
1.000 0.120 2 26468468 stop gained G/A snv 4.0E-06 1
rs111033349
OTOF
1.000 0.120 2 26461854 missense variant C/T snv 8.0E-06 7.0E-06 1
rs111033373
OTOF
1.000 0.120 2 26462182 splice acceptor variant C/T snv 1
rs121908598
OTOF
1.000 0.120 2 26458074 missense variant G/C snv 1