Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
rs864309487
GMNN
0.763 0.280 6 24777279 frameshift variant TCAA/- delins 20
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05 19
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv 17
rs782736894
BPTF
0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06 16
rs1555247672
MED13L
0.827 0.200 12 116007542 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
rs1213930919
TTN-AS1 ; TTN
0.882 0.120 2 178577785 stop gained G/A snv 9
rs1555932766
USP9X
0.882 0.080 X 41210540 stop gained C/T snv 9
rs759103701
MYCN
0.925 0.320 2 15945666 stop gained C/G;T snv 4.0E-06 4