Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7072268
HK1
0.925 0.120 10 69340157 intron variant T/C snv 0.54 2
rs12762549 1.000 0.040 10 99861014 intergenic variant C/G;T snv 1
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs662799
APOA5
0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 33
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 8
rs5744256
IL18
0.827 0.120 11 112152125 intron variant A/G snv 0.16 6
rs4150558
GTF2H1
0.882 0.040 11 18332808 non coding transcript exon variant T/A snv 8.7E-03 3
rs33950542
HBB
1.000 0.040 11 5226665 missense variant A/C;G snv 1
rs542998
RTN3
1.000 0.040 11 63719914 missense variant T/A;C snv 0.81 1
rs121918367
SLC11A2
0.827 0.080 12 50999214 missense variant C/A;T snv 6.0E-05 5
rs1060499688
GNPTAB
0.882 0.200 12 101753399 missense variant A/G snv 4
rs11549465
HIF1A-AS3 ; HIF1A
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs10132552
MEG3
1.000 0.040 14 100834675 non coding transcript exon variant T/C snv 0.25 3
rs11854484
SLC28A2 ; LOC101928414
0.925 0.120 15 45253280 missense variant C/T snv 0.47 0.45 2
rs776035233
LCAT
0.882 0.120 16 67940230 missense variant C/T snv 4.0E-06 5
rs779114194
LCAT
0.925 0.120 16 67940017 missense variant T/C snv 1.4E-05 4
rs41469945
HBA2
0.925 0.080 16 173581 missense variant T/C;G snv 3
rs1555545033
THRA
0.807 0.160 17 40088306 missense variant C/T snv 7
rs1057516674
G6PC
0.882 0.160 17 42901026 frameshift variant GT/- del 5
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 70
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 36
rs12979860
IFNL4
0.547 0.520 19 39248147 intron variant C/T snv 0.39 84
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs8099917 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 60