Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 36
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv 33
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 33
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 22
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv 21
rs555145190
NAGLU
0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 21
rs864309487
GMNN
0.763 0.280 6 24777279 frameshift variant TCAA/- delins 20
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 15
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv 13
rs1555928716
RPS6KA3
0.925 X 20167669 stop gained G/A snv 7