Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894419
LIG4
0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 8
rs759838407
LIG4
0.925 0.160 13 108209756 frameshift variant AG/-;AGAG delins 3
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 16
rs3782886
BRAP
0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 22
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs1057517917
PTPN11
0.925 0.200 12 112450368 missense variant AT/GC mnv 2
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv 13
rs111033552
NT5DC1 ; COL10A1
0.925 0.120 6 116120105 missense variant A/G snv 2
rs2076738
TG
0.807 0.200 8 132906843 missense variant T/C snv 1.6E-05 7.0E-06 6
rs2076739
TG
0.827 0.200 8 132971804 missense variant T/A snv 5
rs1553761113
ATR
0.851 0.240 3 142507967 missense variant C/A snv 5
rs1481733213
ATR
0.851 0.240 3 142568059 splice region variant T/C snv 5
rs756254503
SPARC
0.925 0.120 5 151669740 missense variant G/C snv 4.0E-06 2
rs780108348
NBAS
1.000 0.120 2 15402229 stop gained G/A snv 1.2E-05 4.2E-05 1
rs60864230
LMNA
0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06 7
rs60310264
LMNA
0.827 0.200 1 156130693 missense variant G/A snv 5
rs577492
LMNA
1.000 0.120 1 156130948 intron variant T/C snv 0.22 1
rs121917883
GHSR
0.851 0.160 3 172447803 missense variant G/A;T snv 2.8E-05 4
rs536639583
HOXD13
0.882 0.160 2 176092922 missense variant G/C snv 1.9E-04 6.7E-04 4
rs121917843
PROP1
0.882 0.160 5 177994231 missense variant G/A snv 4.0E-06 3
rs121913479
FGFR3
0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 10
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv 18
rs75790268
FGFR3
0.925 0.120 4 1804377 missense variant G/T snv 2
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv 21
rs17881656
FGFR3
0.925 0.240 4 1804404 missense variant T/A;C snv 8.0E-06; 3.3E-03 3