Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 45
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv 23
rs780631499
AGTPBP1
0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06 23
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 15
rs386833760
CC2D2A
0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 11
rs886039795
TMEM256-PLSCR3 ; TMEM256
0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 10
rs786205645
NEK1
0.827 0.160 4 169508827 frameshift variant TA/- delins 9
rs886039806
KIAA0586
0.851 0.160 14 58467887 missense variant T/A;C;G snv 8
rs758522600
BBS10
0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05 7
rs1553827236
CC2D2A
0.882 0.200 4 15516757 splice donor variant G/A snv 7
rs886039812
DYNC2H1
0.882 0.160 11 103155395 missense variant T/G snv 7
rs201037487
FAM98C
0.925 0.120 19 38407003 stop gained C/G;T snv 4.0E-06; 1.4E-04; 4.0E-06 4.9E-05 7
rs1565868973
TRPV4
1.000 0.120 12 109796650 missense variant A/T snv 6
rs67394386
COL1A1
1.000 0.120 17 50188131 missense variant C/A;T snv 3
rs1057518898
DYNC2H1
11 103256241 splice donor variant G/A;C snv 4.4E-06 3
rs1057518911
COL2A1
12 47976531 missense variant C/G snv 2