Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 37
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv 22
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv 22
rs1558939623
CHN1
0.732 0.480 2 174824479 missense variant C/T snv 19
rs771409809
WFS1
0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 19
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv 18
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 18
rs1566911709
FBN1
0.742 0.240 15 48495502 frameshift variant T/- delins 15
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 14
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv 12
rs397515804
FBN1
0.776 0.200 15 48472628 missense variant C/A;T snv 11
rs113812345
FBN1
0.790 0.160 15 48513591 stop gained G/A snv 10
rs397515789
FBN1
0.776 0.240 15 48488112 splice donor variant C/A;T snv 10
rs1085308004
FBN1
0.807 0.240 15 48425420 missense variant A/G snv 9
rs193922219
FBN1
0.763 0.280 15 48446701 splice region variant C/A;T snv 9
rs1566913974
FBN1
0.807 0.200 15 48505029 missense variant A/C snv 8
rs137854467
FBN1
0.790 0.280 15 48600217 missense variant G/A snv 7
rs1555398673
FBN1
0.807 0.200 15 48488433 missense variant A/G snv 7
rs137854475
FBN1
0.882 0.200 15 48487155 missense variant C/T snv 1.3E-03 1.6E-03 3