Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs727504421
TGFBR2
0.882 0.160 3 30691465 missense variant G/A;T snv 3
rs11466512
TGFBR2
1.000 0.160 3 30671634 splice region variant T/A;C snv 0.30 1
rs2276767
TGFBR2
1.000 0.160 3 30691329 intron variant C/A snv 0.23 1
rs876658120
TGFBR2
1.000 0.160 3 30691437 inframe deletion ACGTTGACTGAG/- delins 1
rs1057519321
FBN2
0.807 0.160 5 128349391 missense variant C/A;T snv 7
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 18
rs199472823
KCNQ1
0.851 0.240 11 2571328 missense variant T/C snv 5
rs121918355
LTBP2
0.807 0.280 14 74555629 stop gained G/A;T snv 2.1E-05; 4.2E-06 7
rs137854855
LTBP2
0.882 0.200 14 74551108 stop gained G/A;C snv 4.0E-06 3
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv 18
rs727503057
FBN1
0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 16
rs1566911709
FBN1
0.742 0.240 15 48495502 frameshift variant T/- delins 15
rs727503054
FBN1
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 15
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 14
rs1555397413
FBN1
0.732 0.280 15 48470705 missense variant T/C snv 13
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv 12
rs137854480
FBN1
0.742 0.200 15 48537629 missense variant G/A snv 11
rs397515804
FBN1
0.776 0.200 15 48472628 missense variant C/A;T snv 11
rs730880099
FBN1
0.742 0.200 15 48510125 missense variant G/A snv 11