Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2744371
DSP
0.925 0.080 6 7553941 intron variant A/C;G snv 2
rs3750920
TOLLIP
0.807 0.120 11 1288726 synonymous variant C/T snv 0.40 0.38 7
rs2395655
CDKN1A ; DINOL
0.882 0.120 6 36677919 5 prime UTR variant A/G snv 0.43 0.49 5
rs868903
MUC5B
0.882 0.120 11 1221460 upstream gene variant T/C snv 0.47 4
rs733590
CDKN1A ; DINOL
0.882 0.120 6 36677426 intron variant T/C snv 0.41 3
rs199422294
TERT
0.827 0.160 5 1280216 missense variant C/T snv 5
rs8182352 0.827 0.160 17 5651667 intergenic variant T/C snv 0.44 5
rs17690703
MAPT-AS1
0.882 0.160 17 45847931 intron variant C/T snv 0.18 4
rs201540674
RTEL1-TNFRSF6B ; TNFRSF6B ; RTEL1
0.851 0.160 20 63695619 missense variant G/A snv 1.6E-04 7.7E-05 4
rs397728201
SFTPA1
0.925 0.160 10 79614033 stop gained C/A;T snv 3.6E-05; 4.0E-06 4
rs398123017
RTEL1 ; RTEL1-TNFRSF6B
0.851 0.160 20 63693211 stop gained C/A;G;T snv 4.0E-06; 3.2E-05 4
rs628977
ADAM33
0.851 0.160 20 3669074 intron variant T/C snv 0.65 4
rs121918666
TERT
0.882 0.160 5 1266524 missense variant C/T snv 8.2E-06 7.0E-06 3
rs776744306
RTEL1-TNFRSF6B ; RTEL1
0.882 0.160 20 63690442 splice donor variant G/A;C snv 4.5E-06 3
rs863225129
RTEL1-TNFRSF6B ; RTEL1
0.925 0.160 20 63687936 splice acceptor variant G/A snv 2
rs1061581
HSPA1A ; HSPA1L
0.827 0.200 6 31816809 synonymous variant G/A snv 6
rs35705950 0.763 0.240 11 1219991 splice region variant G/A;T snv 14
rs2227307
CXCL8
0.851 0.240 4 73740952 intron variant T/G snv 0.45 6
rs2305619
VEPH1 ; PTX3
0.882 0.240 3 157437072 intron variant A/G snv 0.55 0.50 3
rs113993959
CFTR
0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 25
rs11568818
MMP7
0.763 0.280 11 102530930 upstream gene variant T/A;C snv 15
rs1043618
HSPA1L ; HSPA1A
0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06 10
rs74597325
CFTR
0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 18
rs2227956
HSPA1L
0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87 12
rs5029939
TNFAIP3
0.701 0.440 6 137874586 intron variant C/G snv 0.13 19