Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1014959895
PRMT7
0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 16
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 28
rs1057518907
GNAS
0.732 0.320 20 58891811 stop gained C/G;T snv 16
rs1057518972
TRPS1
0.827 0.200 8 115418359 missense variant C/T snv 7
rs1057519324
NPR2
0.925 0.080 9 35801153 stop gained C/T snv 7.0E-06 4
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins 13
rs1251713297
PRMT7
0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 15
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 15
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 28
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 38
rs140047318
BMPR1B
0.882 0.080 4 95152757 missense variant G/A;C;T snv 1.6E-05; 4.0E-06 3
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv 16
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv 38
rs1555528356
ANKRD11
0.790 0.360 16 89282836 stop gained G/A snv 13
rs1556165162
HDAC8
0.882 0.120 X 72572657 frameshift variant GG/- delins 7
rs1565311145
DYNC2H1
0.882 0.120 11 103116677 stop gained T/A snv 7
rs1565317399
DYNC2H1
0.882 0.120 11 103122879 stop gained C/T snv 6
rs1567499068
SCAPER
0.882 0.160 15 76574190 frameshift variant G/- delins 6
rs1567690011
PRMT7
0.882 0.080 16 68337496 frameshift variant AG/- delins 9
rs1567721991
PRMT7
0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins 9
rs199566527
NOG
0.882 0.080 17 56594498 missense variant G/A snv 1.7E-03 1.7E-03 3
rs267607016
ROR2
0.882 0.120 9 91726603 stop gained G/A snv 4.0E-06 1.4E-05 3
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97