Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs876657852
SRFBP1 ; LOX
0.925 5 122074155 missense variant A/C snv 2
rs886040966
LOX
0.882 0.040 5 122077861 stop gained C/T snv 3
rs387906781
MYLK ; MYLK-AS1
0.925 3 123620300 missense variant A/G snv 2
rs1553808296
LOC105369194 ; MYLK
0.925 0.040 3 123707752 splice donor variant A/G snv 2
rs1554799402
COL5A1
0.925 0.040 9 134785008 missense variant G/C snv 2
rs869025494
NOTCH1
1.000 9 136517851 stop gained G/A snv 1
rs794728677
MYH11 ; NDE1
1.000 16 15721419 splice donor variant -/A delins 1
rs730880147
MYH11
1.000 16 15726938 inframe deletion CTT/- delins 4.8E-05 1.4E-05 1
rs267606902
MYH11
0.925 0.080 16 15748092 missense variant C/T snv 2
rs1555459260
MYH11
0.925 0.040 16 15838252 start lost T/C snv 2
rs1553507180
COL3A1
0.925 0.040 2 188988083 frameshift variant C/- delins 2
rs1553507867
MIR3606 ; COL3A1
0.925 0.040 2 188994066 missense variant G/A snv 2
rs121912923
COL3A1
0.882 0.160 2 188996479 missense variant G/A;C;T snv 3
rs869312034
COL3A1
0.925 0.160 2 189006260 splice donor variant G/A;T snv 2
rs770974455
COL5A2
0.925 0.040 2 189045834 missense variant C/A;T snv 8.0E-06 2
rs1553517181
COL5A2
0.925 0.040 2 189084028 missense variant C/T snv 2
rs727504292
TGFBR2
0.882 0.120 3 30672250 missense variant G/A;C snv 1.6E-05 3
rs886039106
TGFBR2
1.000 3 30672361 missense variant G/A snv 1
rs1553630426
TGFBR2
1.000 3 30674109 missense variant G/T snv 1
rs878854610
TGFBR2
1.000 3 30674121 missense variant A/G;T snv 1
rs886039551
TGFBR2
0.882 0.120 3 30674186 missense variant G/A snv 4
rs104893807
TGFBR2
0.925 0.120 3 30674196 missense variant C/G;T snv 2
rs104893811
TGFBR2
0.851 0.160 3 30674228 missense variant C/T snv 4
rs104893816
TGFBR2
0.882 0.120 3 30674229 missense variant G/A;T snv 4.0E-06 3
rs1553631693
TGFBR2
1.000 3 30688383 splice acceptor variant G/A snv 1