Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs113993959
CFTR
0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 25
rs759191907
LOC105379841 ; ENG
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 25
rs74597325
CFTR
0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 18
rs78655421
CFTR
0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 18
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv 16
rs35705950 0.763 0.240 11 1219991 splice region variant G/A;T snv 14
rs730882242
DIAPH1
0.807 0.280 5 141573518 stop gained G/A snv 7
rs1569162748
OFD1
0.925 0.120 X 13767142 frameshift variant AAATT/- del 7
rs770861172
DNAH7
0.827 0.160 2 195857582 missense variant C/T snv 4.0E-06 7.0E-06 6
rs777516785
USP11
0.882 0.120 X 47242504 synonymous variant G/A snv 1.1E-05 5
rs1057516212
SERPINA1
0.925 0.160 14 94382947 frameshift variant AGTG/- delins 3
rs773717255
ADRB2
0.925 0.040 5 148827469 missense variant T/C snv 3.2E-05 7.0E-05 2
rs6647
SERPINA1
0.925 0.040 14 94381078 missense variant A/G snv 0.21 0.31 2
rs2070741
GC
1.000 0.040 4 71741961 intron variant T/G snv 7.4E-02 1