Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 35
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs267607261
MPV17
0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 28
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv 18
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 17
rs774277300
MRE11
0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 17
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 15
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv 15
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 14
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv 13
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 8
rs761857514
FBN1
0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06 8
rs1057518891
CHD7
0.851 0.120 8 60854479 stop gained C/T snv 6
rs1567564042
MYH3
0.827 0.120 17 10654924 stop gained A/C snv 6
rs786204875
PTEN
0.882 0.120 10 87960913 stop gained G/A;T snv 4
rs1057518789
CREBBP
0.925 0.040 16 3728803 stop gained G/A snv 2
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38