Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs747607158
CFI
1.000 0.120 4 109740999 missense variant T/C snv 1
rs1042713
ADRB2
0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 63
rs1042714
ADRB2
0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 54
rs886043448
DNAH5
0.882 0.200 5 13793709 missense variant C/T snv 2.0E-05 1.4E-05 4
rs35772018
DCTN4
0.925 0.160 5 150730677 missense variant T/C snv 1.3E-02 1.3E-02 2
rs56302516
SLC9A3
1.000 0.120 5 518319 intron variant C/G;T snv 1
rs57221529 1.000 0.120 5 586509 regulatory region variant A/G snv 0.16 1
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs9268905
HLA-DRB9
0.925 0.280 6 32464300 intron variant G/C snv 0.29 2
rs117230773
HLA-DRB9
1.000 0.120 6 32465964 intron variant G/A snv 1
rs749327704
DNAH8
1.000 0.120 6 38826351 missense variant A/G snv 4.0E-06 1
rs113993959
CFTR
0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 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
rs213950
CFTR-AS1 ; CFTR
0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 16
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 15
rs77010898
CFTR
0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 13
rs1800076
CFTR
0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 10
rs75961395
CFTR
0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 10
rs397508638
CFTR
0.807 0.160 7 117652871 frameshift variant A/-;AA delins 9
rs75541969
CFTR
0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04 9
rs80034486
CFTR
0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 9
rs74551128
CFTR-AS1 ; CFTR
0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 8
rs77932196
CFTR
0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05 8