Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2070600
AGER
0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82
rs2227306
CXCL8
0.677 0.680 4 73741338 intron variant C/T snv 0.31 21
rs2075800
HSPA1L
0.776 0.440 6 31810169 missense variant C/T snv 0.32 0.25 8
rs3750920
TOLLIP
0.807 0.120 11 1288726 synonymous variant C/T snv 0.40 0.38 7
rs199422294
TERT
0.827 0.160 5 1280216 missense variant C/T snv 5
rs17690703
MAPT-AS1
0.882 0.160 17 45847931 intron variant C/T snv 0.18 4
rs121918666
TERT
0.882 0.160 5 1266524 missense variant C/T snv 8.2E-06 7.0E-06 3
rs1061581
HSPA1A ; HSPA1L
0.827 0.200 6 31816809 synonymous variant G/A snv 6
rs201540674
RTEL1-TNFRSF6B ; TNFRSF6B ; RTEL1
0.851 0.160 20 63695619 missense variant G/A snv 1.6E-04 7.7E-05 4
rs11568819
MMP7
1.000 0.040 11 102530902 upstream gene variant G/A snv 5.5E-02 2
rs863225129
RTEL1-TNFRSF6B ; RTEL1
0.925 0.160 20 63687936 splice acceptor variant G/A snv 2
rs62025270
LOC101929679
1.000 0.040 15 85756967 upstream gene variant G/A snv 0.17 1
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs776744306
RTEL1-TNFRSF6B ; RTEL1
0.882 0.160 20 63690442 splice donor variant G/A;C snv 4.5E-06 3
rs748223349
RTEL1-TNFRSF6B ; RTEL1
1.000 0.040 20 63688001 missense variant G/A;C snv 1.6E-05 1
rs2227956
HSPA1L
0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87 12
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
rs113993959
CFTR
0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 25
rs35705950 0.763 0.240 11 1219991 splice region variant G/A;T snv 14
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
rs121917835
BMP1 ; SFTPC
0.925 0.040 8 22164010 missense variant T/A snv 2
rs2853676
TERT
0.667 0.560 5 1288432 intron variant T/A;C snv 29
rs11568818
MMP7
0.763 0.280 11 102530930 upstream gene variant T/A;C snv 15
rs121917834
SFTPC
0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 10