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
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs121909574
TFAP2A-AS2 ; TFAP2A
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 17
rs1566911709
FBN1
0.742 0.240 15 48495502 frameshift variant T/- delins 15
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv 13
rs760929207
OBSL1
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 12
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv 11
rs1561873941
CUL7
0.925 0.200 6 43040335 frameshift variant T/- del 10
rs1559155954
OBSL1
0.851 0.200 2 219568211 frameshift variant -/A delins 9
rs771148519
WDR19
0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 9
rs1561898352
CUL7 ; KLC4
0.882 0.200 6 43052582 frameshift variant -/A delins 8
rs1555398673
FBN1
0.807 0.200 15 48488433 missense variant A/G snv 7
rs1555928716
RPS6KA3
0.925 X 20167669 stop gained G/A snv 7
rs1057518891
CHD7
0.851 0.120 8 60854479 stop gained C/T snv 6
rs1057518812
FBN1
0.827 0.240 15 48430742 missense variant T/A snv 6
rs1553544133
SATB2
0.851 0.200 2 199308845 frameshift variant TC/- delins 6