Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 37
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs267607261
MPV17
0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 28
rs4149584
TNFRSF1A
0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02 24
rs864321670
ALDH18A1
0.763 0.320 10 95633012 missense variant C/T snv 24
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv 23
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 20
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 18
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv 18
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs1555640521
LAMA1
0.790 0.320 18 6942110 frameshift variant A/- delins 15
rs1563452941
SLC20A2
0.882 0.120 8 42437137 stop gained C/A snv 13
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins 12
rs797045032
CLCN1
0.827 0.280 7 143321720 missense variant GG/TC mnv 11
rs867770797
EDNRA
0.851 0.200 4 147519875 missense variant G/A snv 8
rs1564691414
FAS
0.925 0.160 10 89007698 splice acceptor variant A/G snv 7
rs1676486
COL11A1
0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06 7
rs866445127
NF1
0.851 0.240 17 31352348 stop gained C/T snv 7
rs1518110
IL10 ; IL19
0.851 0.160 1 206771516 intron variant A/C;T snv 5
rs2651899
PRDM16 ; LOC105378606
0.882 0.040 1 3167148 intron variant T/A;C snv 5
rs768366978
NF1
0.851 0.240 17 31352411 missense variant C/T snv 4.0E-06 5