Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 36
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 28
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 22
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 22
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1565706229
EED ; MIR6755
0.851 0.120 11 86277110 missense variant T/C snv 18
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 17
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs886041936
HDAC8
0.827 0.120 X 72495210 stop gained G/A snv 14
rs200426926
THOC6 ; BICDL2
0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06 13
rs138632121
THOC6 ; HCFC1R1
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 13
rs376754460
PMM2
0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 12
rs863225094
PPP2R1A
0.827 0.160 19 52213076 missense variant G/A snv 10
rs1057518913
EHMT1
0.851 0.320 9 137762822 splice donor variant T/C snv 7
rs1555471098
CREBBP
0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del 6
rs1057516034
NIPBL
0.925 0.120 5 37052453 stop gained C/T snv 5