Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv 18
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs1568019012
LAMA1
0.790 0.360 18 6985616 stop gained G/A snv 13
rs397507478
BRAF
0.790 0.440 7 140777014 missense variant C/A snv 12
rs11225395
MMP8
0.776 0.360 11 102725749 intron variant A/C;G snv 11
rs1327062642
TULP1
0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 11
rs876657380
ARID1B
0.851 0.360 6 157181155 frameshift variant AA/- delins 11
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv 10
rs1085307138
PUF60 ; SCRIB
0.807 0.160 8 143817591 splice donor variant C/T snv 9
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 8
rs61754381
LOC107984363 ; TYR
0.790 0.200 11 89227816 splice region variant T/A;C snv 9.5E-04; 8.0E-06 8
rs1057518799
POGZ
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 7
rs1057518812
FBN1
0.827 0.240 15 48430742 missense variant T/A snv 6
rs1057518881
FBN1
0.827 0.200 15 48513656 missense variant C/A;G;T snv 6
rs1057518891
CHD7
0.851 0.120 8 60854479 stop gained C/T snv 6
rs876657731
USH2A ; LOC102723833
0.807 0.200 1 216073096 splice donor variant C/T snv 1.2E-05 6
rs1057518909
FBN1
0.925 0.120 15 48534099 frameshift variant CATT/- delins 5
rs1057518938
NDE1 ; MYH11
0.882 0.080 16 15724166 missense variant C/G snv 5
rs879255531
EHMT1
0.882 0.400 9 137728379 stop gained C/T snv 5
rs121912882
COL2A1 ; LOC105369752
0.851 0.280 12 47979534 missense variant G/A snv 4
rs397515624
CRYAA ; LOC107987300
0.851 0.040 21 43169133 missense variant C/T snv 4.0E-06 4
rs9330813
WNT7B
1.000 0.040 22 45968281 intron variant G/A;C snv 4
rs104894910
NYX
0.882 0.080 X 41473734 missense variant G/C snv 3