Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs2070600
AGER
0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82
rs3775291
TLR3
0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 51
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 32
rs2227956
HSPA1L
0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87 12
rs121917834
SFTPC
0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 10
rs2075800
HSPA1L
0.776 0.440 6 31810169 missense variant C/T snv 0.32 0.25 8
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
rs199422294
TERT
0.827 0.160 5 1280216 missense variant C/T snv 5
rs201540674
RTEL1-TNFRSF6B ; TNFRSF6B ; RTEL1
0.851 0.160 20 63695619 missense variant G/A snv 1.6E-04 7.7E-05 4
rs121918666
TERT
0.882 0.160 5 1266524 missense variant C/T snv 8.2E-06 7.0E-06 3
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
rs748223349
RTEL1-TNFRSF6B ; RTEL1
1.000 0.040 20 63688001 missense variant G/A;C snv 1.6E-05 1
rs863225130
RTEL1-TNFRSF6B ; RTEL1
1.000 0.040 20 63688161 missense variant T/G snv 1
rs1800925
IL13 ; TH2LCRR
0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 37
rs3750920
TOLLIP
0.807 0.120 11 1288726 synonymous variant C/T snv 0.40 0.38 7
rs1061581
HSPA1A ; HSPA1L
0.827 0.200 6 31816809 synonymous variant G/A snv 6
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
rs2395655
CDKN1A ; DINOL
0.882 0.120 6 36677919 5 prime UTR variant A/G snv 0.43 0.49 5
rs2004640
IRF5
0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 26
rs776744306
RTEL1-TNFRSF6B ; RTEL1
0.882 0.160 20 63690442 splice donor variant G/A;C snv 4.5E-06 3
rs869312855
RTEL1-TNFRSF6B ; RTEL1
1.000 0.040 20 63678184 splice donor variant -/T delins 1
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83