Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs569681869
COL4A4
0.925 0.040 2 227059468 missense variant C/G snv 7.2E-05 3.5E-05 6
rs1057518812
FBN1
0.827 0.240 15 48430742 missense variant T/A snv 6
rs1057518881
FBN1
0.827 0.200 15 48513656 missense variant C/A;G;T snv 6
rs752134549
RSRC2
0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-06 6
rs876657731
USH2A ; LOC102723833
0.807 0.200 1 216073096 splice donor variant C/T snv 1.2E-05 6
rs533297350
COL4A4
1.000 0.040 2 227010441 missense variant C/T snv 7.2E-05 3.5E-05 5
rs879255531
EHMT1
0.882 0.400 9 137728379 stop gained C/T snv 5
rs1057518909
FBN1
0.925 0.120 15 48534099 frameshift variant CATT/- delins 5
rs12423791
IGF1
0.925 0.040 12 102465050 intron variant G/C snv 2.8E-02 5
rs2274755
MMP9
0.882 0.040 20 46011053 splice region variant G/T snv 0.15 0.15 5
rs1057518938
NDE1 ; MYH11
0.882 0.080 16 15724166 missense variant C/G snv 5
rs3138141
RDH5 ; BLOC1S1-RDH5
0.827 0.040 12 55721994 3 prime UTR variant C/A snv 0.19 0.16 5
rs4373767 0.882 0.040 1 219586340 regulatory region variant C/T snv 0.32 4
rs8027411
ANKRD34C-AS1
0.882 0.040 15 79168687 intron variant G/T snv 0.52 4
rs121912882
COL2A1 ; LOC105369752
0.851 0.280 12 47979534 missense variant G/A snv 4
rs397515624
CRYAA ; LOC107987300
0.851 0.040 21 43169133 missense variant C/T snv 4.0E-06 4
rs5742632
LINC02456 ; IGF1
0.851 0.120 12 102462696 intron variant A/G snv 0.26 4
rs131451
MMP11 ; LOC107985577
0.882 0.120 22 23771357 intron variant C/T snv 0.82 4
rs7839488
SNTB1
0.882 0.040 8 120550178 intron variant G/A snv 0.47 4
rs9330813
WNT7B
1.000 0.040 22 45968281 intron variant G/A;C snv 4
rs13382811
ZEB2
0.882 0.040 2 144466053 intron variant C/T snv 0.21 4
rs10034228 0.882 0.040 4 111690594 intergenic variant T/C snv 0.32 3
rs12716080
CTNND2
0.882 0.040 5 11166836 intron variant G/T snv 0.39 3
rs6885224
CTNND2
0.882 0.040 5 11169833 intron variant C/A;T snv 3
rs10824518
KCNMA1
0.882 0.040 10 77303784 intron variant T/A;C snv 3