Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs759191907
LOC105379841 ; ENG
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 25
rs113993959
CFTR
0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 19
rs74597325
CFTR
0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 16
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv 15
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
rs730882242
DIAPH1
0.807 0.280 5 141573518 stop gained G/A snv 5
rs777516785
USP11
0.882 0.120 X 47242504 synonymous variant G/A snv 1.1E-05 5
rs78655421
CFTR
0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 4
rs1057516212
SERPINA1
0.925 0.160 14 94382947 frameshift variant AGTG/- delins 3
rs35705950 0.763 0.240 11 1219991 splice region variant G/A;T snv 1