Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs727503057
FBN1
0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 16
rs137854480
FBN1
0.742 0.200 15 48537629 missense variant G/A snv 9
rs193922185
FBN1
0.752 0.200 15 48505037 missense variant G/A snv 9
rs193922219
FBN1
0.763 0.280 15 48446701 splice region variant C/A;T snv 9
rs730880099
FBN1
0.742 0.200 15 48510125 missense variant G/A snv 9
rs1555395001
FBN1
0.807 0.200 15 48434600 missense variant A/G snv 8
rs1566913974
FBN1
0.807 0.200 15 48505029 missense variant A/C snv 8
rs1057518883
FBN1
0.851 0.240 15 48415571 missense variant A/C snv 7
rs137854467
FBN1
0.790 0.280 15 48600217 missense variant G/A snv 6
rs137854464
FBN1
0.851 0.200 15 48425483 missense variant C/T snv 7.0E-06 4
rs199473693
ADAMTSL4-AS2 ; ADAMTSL4
0.882 0.160 1 150553750 frameshift variant AGGCCTCTGGCACAGAGCCC/- delins 3
rs1057518973
FBN1
0.925 0.120 15 48596343 missense variant A/C;G snv 3
rs121918355
LTBP2
0.807 0.280 14 74555629 stop gained G/A;T snv 2.1E-05; 4.2E-06 2
rs118203985
ADAMTSL4 ; ADAMTSL4-AS2
0.925 0.080 1 150556974 stop gained T/A;G snv 4.0E-06; 2.0E-05 1
rs137854479
FBN1
0.925 0.200 15 48497298 missense variant T/C snv 1