Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397515757
FBN1
0.752 0.200 15 48515382 splice region variant C/T snv 10
rs794728195
FBN1
0.752 0.200 15 48495155 missense variant G/A snv 10
rs1553553086
FARSB
0.827 0.280 2 222623699 missense variant C/T snv 9
rs1396171148
FARSB
0.851 0.200 2 222613892 missense variant T/G snv 5
rs1419129874
FARSB
0.851 0.200 2 222642894 missense variant A/G snv 7.0E-06 5
rs1466642025
FARSB
0.851 0.200 2 222631635 missense variant A/G snv 7.0E-06 5
rs1553554543
FARSB
0.851 0.200 2 222631606 missense variant T/C snv 5
rs794728319
FBN1
0.851 0.160 15 48427731 frameshift variant AT/- del 4
rs863223852
TGFBR2
0.882 0.120 3 30688476 stop gained C/A;T snv 4.0E-06 4
rs121912923
COL3A1
0.882 0.160 2 188996479 missense variant G/A;C;T snv 3
rs1555395209
FBN1
0.882 0.160 15 48437054 frameshift variant -/G delins 3
rs1555395742
FBN1
0.882 0.160 15 48445370 splice region variant A/G snv 3
rs1555396638
FBN1
0.882 0.160 15 48460305 frameshift variant -/TA delins 3
rs193922198
FBN1
0.882 0.160 15 48488383 frameshift variant C/- del 3
rs397515808
FBN1
0.882 0.160 15 48470687 missense variant C/A;G;T snv 1.6E-05 3
rs794728165
FBN1
0.882 0.160 15 48520716 stop gained G/A snv 3
rs794728190
FBN1
0.882 0.160 15 48496213 missense variant C/A;T snv 3
rs1557175789
FLNA
1.000 0.040 X 154351577 splice region variant T/A snv 3
rs1555619056
NF1
0.925 0.160 17 31261858 splice donor variant G/A;C snv 3
rs1015798796
SLC2A10
0.882 0.160 20 46725684 stop gained C/G snv 1.4E-05 3
rs104893809
TGFBR2
0.882 0.120 3 30691504 missense variant C/T snv 3
rs727503475
TGFBR2
0.882 0.120 3 30688512 splice donor variant G/A;T snv 3
rs193922153
COL1A1
0.925 0.040 17 50189173 missense variant G/A snv 1.5E-04 1.8E-04 2
rs1553507180
COL3A1
0.925 0.040 2 188988083 frameshift variant C/- delins 2
rs1554799402
COL5A1
0.925 0.040 9 134785008 missense variant G/C snv 2