Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs1568523935
SLC25A42
0.776 0.240 19 19105656 stop gained C/G snv 20
rs1251778848
KMT2D
0.790 0.400 12 49039277 stop gained G/A snv 11
rs121912683
SLC25A4
0.851 0.200 4 185145020 missense variant C/A snv 4.0E-06 7.0E-06 9
rs727502810
RIC3 ; TUB
0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 8
rs1553403917
ALMS1
0.807 0.320 2 73451171 frameshift variant -/A delins 7
rs727503773
SMC1A
0.882 0.160 X 53412950 inframe deletion TCT/- delins 7
rs28938175
COCH ; LOC100506071
0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06 6
rs1564405163
GATA3
0.807 0.280 10 8073746 missense variant G/C snv 6
rs104894409
GJB2
0.827 0.120 13 20189332 missense variant C/A;G;T snv 1.6E-05; 3.6E-05; 4.0E-06 6
rs111033437
MYO7A
0.882 0.120 11 77179925 missense variant G/A;T snv 6
rs121912968
GJB2
0.827 0.280 13 20189364 missense variant T/C snv 5
rs111033405
OTOF
0.851 0.160 2 26465753 missense variant A/G snv 4.0E-05 2.1E-05 4
rs879253741
GJB2
0.882 0.200 13 20189516 missense variant C/A snv 3
rs202138002
P2RX2
0.882 0.120 12 132621535 missense variant G/A;C snv 1.8E-05 3
rs28937588
KCNQ4
0.925 0.120 1 40819893 missense variant G/A;T snv 2
rs797044968
KCNQ4
0.925 0.120 1 40819461 missense variant T/C snv 2
rs1554218566
MYO6
0.925 0.120 6 75890115 stop gained C/A snv 2
rs748718975
DPT
1.000 0.120 1 168696611 missense variant G/A snv 2.0E-05 1.4E-05 1
rs766472752
IFNLR1
1.000 0.120 1 24169488 missense variant C/T snv 1.6E-05 1
rs201204631
IL18R1
1.000 0.120 2 102372000 missense variant A/C;G snv 7.0E-05 1
rs767470753
P2RX2
1.000 0.120 12 132621043 missense variant G/T snv 5.6E-05 1