Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
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
rs121917834
SFTPC
0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 10
rs121917737
SFTPA2
0.827 0.080 10 79557264 missense variant C/A snv 5
rs121917738
SFTPA2
0.827 0.080 10 79557363 missense variant A/G snv 5
rs2076295
DSP
0.882 0.080 6 7562999 intron variant T/G snv 0.46 5
rs12602273
TP53
0.851 0.080 17 7679695 intron variant C/G snv 0.15 4
rs2744371
DSP
0.925 0.080 6 7553941 intron variant A/C;G snv 2
rs5743890
TOLLIP
0.925 0.040 11 1304599 intron variant T/C snv 9.7E-02 4
rs1060502990
TERT
0.925 0.040 5 1294549 frameshift variant -/G delins 2
rs11568819
MMP7
1.000 0.040 11 102530902 upstream gene variant G/A snv 5.5E-02 2
rs121917835
BMP1 ; SFTPC
0.925 0.040 8 22164010 missense variant T/A snv 2
rs146221660
RTEL1 ; RTEL1-TNFRSF6B
0.925 0.040 20 63693248 missense variant G/A;T snv 2.8E-05; 4.0E-06 2
rs1554038257
TERT
0.925 0.040 5 1255333 frameshift variant GA/- delins 2
rs1554042899
TERT
0.925 0.040 5 1293837 frameshift variant AG/- delins 2