Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7903146
TCF7L2
0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs1800469
B9D2 ; TGFB1
0.547 0.760 19 41354391 intron variant A/G snv 0.69 78
rs4073
CXCL8
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 64
rs1982073
TGFB1
0.649 0.640 19 41353016 missense variant G/A;C snv 32
rs2227306
CXCL8
0.677 0.680 4 73741338 intron variant C/T snv 0.31 21
rs397508638
CFTR
0.807 0.160 7 117652871 frameshift variant A/-;AA delins 9
rs11003125
MBL2
0.790 0.480 10 52772254 upstream gene variant G/C snv 0.31 7
rs113993960
CFTR ; CFTR-AS1
0.827 0.160 7 117559591 inframe deletion CTT/- delins 8.0E-03 6
rs2227307
CXCL8
0.851 0.240 4 73740952 intron variant T/G snv 0.45 6
rs121908799
CFTR
0.851 0.160 7 117592218 frameshift variant AA/G delins 4
rs121908802
CFTR
0.851 0.160 7 117535263 missense variant C/T snv 7.0E-06 4
rs397508266
CFTR
0.851 0.160 7 117589467 intron variant A/G snv 2.8E-05 4
rs75039782
CFTR
0.851 0.160 7 117639961 intron variant C/G;T snv 4
rs7512462
SLC26A9
0.882 0.200 1 205930467 intron variant T/C snv 0.38 4
rs79282516
CFTR-AS1 ; CFTR
0.851 0.160 7 117559509 missense variant G/A;T snv 4
rs1805177
CFTR ; CFTR-AS1
0.925 0.160 7 117548629 splice acceptor variant TTTTTT/-;TTTT;TTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTTT delins 3
rs58598099
PKD1
0.882 0.200 16 2116917 missense variant A/G snv 3
rs7316
SFTPB
0.882 0.160 2 85658890 3 prime UTR variant T/C snv 0.14 3
rs1057516457
CFTR
0.925 0.160 7 117664711 frameshift variant CA/- delins 2
rs1143639
IL1B
1.000 0.120 2 112831216 non coding transcript exon variant C/T snv 0.20 2
rs121908745
CFTR ; CFTR-AS1
0.925 0.160 7 117559587 inframe deletion ATC/- delins 2
rs121908746
CFTR
0.925 0.160 7 117592213 frameshift variant AA/-;A;AAA;AAAA delins 7.7E-05 2
rs121908767
CFTR
0.925 0.160 7 117610593 inframe deletion ATAGTG/- delins 2
rs121908768
CFTR
0.925 0.160 7 117540157 inframe deletion TCT/- delins 7.0E-05 2
rs121908769
CFTR
0.925 0.160 7 117509128 frameshift variant TT/- delins 1.5E-04 2