Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2076295
DSP
0.882 0.080 6 7562999 intron variant T/G snv 0.46 5
rs2395655
CDKN1A ; DINOL
0.882 0.120 6 36677919 5 prime UTR variant A/G snv 0.43 0.49 5
rs733590
CDKN1A ; DINOL
0.882 0.120 6 36677426 intron variant T/C snv 0.41 3
rs2744371
DSP
0.925 0.080 6 7553941 intron variant A/C;G snv 2
rs2004640
IRF5
0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 26
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
rs121917834
SFTPC
0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 10
rs121917835
BMP1 ; SFTPC
0.925 0.040 8 22164010 missense variant T/A snv 2
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
rs397728201
SFTPA1
0.925 0.160 10 79614033 stop gained C/A;T snv 3.6E-05; 4.0E-06 4
rs11568818
MMP7
0.763 0.280 11 102530930 upstream gene variant T/A;C snv 15
rs35705950 0.763 0.240 11 1219991 splice region variant G/A;T snv 14
rs3750920
TOLLIP
0.807 0.120 11 1288726 synonymous variant C/T snv 0.40 0.38 7
rs5743890
TOLLIP
0.925 0.040 11 1304599 intron variant T/C snv 9.7E-02 4
rs868903
MUC5B
0.882 0.120 11 1221460 upstream gene variant T/C snv 0.47 4
rs11568819
MMP7
1.000 0.040 11 102530902 upstream gene variant G/A snv 5.5E-02 2
rs111521887
TOLLIP
1.000 0.040 11 1291476 intron variant C/G snv 0.12 1
rs5743894
LOC105376512 ; TOLLIP
1.000 0.040 11 1303542 intron variant T/A;C snv 1
rs62025270
LOC101929679
1.000 0.040 15 85756967 upstream gene variant G/A snv 0.17 1
rs8182352 0.827 0.160 17 5651667 intergenic variant T/C snv 0.44 5
rs12602273
TP53
0.851 0.080 17 7679695 intron variant C/G snv 0.15 4
rs17690703
MAPT-AS1
0.882 0.160 17 45847931 intron variant C/T snv 0.18 4
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107