Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1558939623
CHN1
0.732 0.480 2 174824479 missense variant C/T snv 19
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins 20
rs1569309484
RLIM
0.807 0.200 X 74591586 missense variant A/G snv 13
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 50
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs397515789
FBN1
0.776 0.240 15 48488112 splice donor variant C/A;T snv 10
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 8
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs61752129
PEX26
0.776 0.240 22 18078405 frameshift variant C/-;CC delins 14
rs730882245
KIAA1109
0.827 0.160 4 122207168 stop gained T/A snv 6
rs753317536
EVC
0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 12
rs771409809
WFS1
0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 19
rs782736894
BPTF
0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06 16
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv 17
rs797045954
SF3B4
0.851 0.160 1 149923568 frameshift variant TCGAGGGGGAACTGGTGGCC/- delins 5
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv 21
rs864309487
GMNN
0.763 0.280 6 24777279 frameshift variant TCAA/- delins 20
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43