Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518812
FBN1
0.827 0.240 15 48430742 missense variant T/A snv 6
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs1057518883
FBN1
0.851 0.240 15 48415571 missense variant A/C snv 7
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
rs1064797103
OTUD6B
0.827 0.280 8 91078597 missense variant A/G snv 9
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1085308004
FBN1
0.807 0.240 15 48425420 missense variant A/G snv 9
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 15
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 18
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv 18
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 25
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 23
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 25
rs1269636220
WDR11
0.851 0.280 10 120865109 missense variant A/G snv 5
rs12720458
KCNQ1
0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 20
rs1306416169
NSMF
0.851 0.280 9 137453808 missense variant C/T snv 5
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv 12
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs137854467
FBN1
0.790 0.280 15 48600217 missense variant G/A snv 7
rs1487309678
SEMA3A
0.851 0.280 7 84014246 missense variant C/T snv 8.0E-06 5
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53