Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs864321670
ALDH18A1
0.763 0.320 10 95633012 missense variant C/T snv 24
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 16
rs28928910
NEFL
0.827 0.200 8 24956452 missense variant G/A;T snv 11
rs374997012
TWNK ; MRPL43
0.851 0.280 10 100989114 missense variant C/T snv 8.0E-06 7.0E-06 9
rs886037832
TWNK ; MRPL43
0.851 0.280 10 100988541 frameshift variant T/- delins 9
rs1057518813
ERCC5 ; BIVM-ERCC5
0.790 0.240 13 102873305 frameshift variant CT/- delins 8
rs1057518780
GJB1
0.882 0.200 X 71224209 missense variant T/G snv 8
rs1445287184
LOC105369867 ; PTPRQ
1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05 7
rs121913589
MPZ
0.827 0.200 1 161306863 missense variant C/A;G;T snv 7
rs1171462240
MTMR2
0.851 0.160 11 95849784 stop gained G/A snv 7.0E-06 6
rs1565942358
FGD4
0.827 0.200 12 32640442 frameshift variant -/A delins 5
rs776757548
MTMR2
0.882 0.160 11 95847803 stop gained G/A;C snv 8.0E-06; 4.0E-06 5
rs879253979
DYNC1H1
0.925 0.120 14 101979951 missense variant C/G;T snv 4
rs864309526
FBLN5
0.925 0.120 14 91877555 missense variant G/A snv 2