Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs800292
CFH
0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 33
rs1065489
CFH
0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 19
rs1410996
CFH
0.807 0.240 1 196727803 intron variant G/A snv 0.46 11
rs2274700
CFH
0.776 0.240 1 196713817 synonymous variant G/A;C;T snv 0.44 11
rs1329428
CFH
0.807 0.160 1 196733680 intron variant C/T snv 0.44 9
rs3753394
CFH
0.882 0.040 1 196651787 upstream gene variant C/T snv 0.22 5
rs754100400
IGFN1
0.925 0.040 1 201211089 missense variant A/G snv 7.1E-06 4.6E-05 2
rs13095226
COL8A1
0.851 0.040 3 99677428 intron variant T/C snv 9.5E-02 5
rs3775291
TLR3
0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 51
rs10033900
CFI
0.807 0.040 4 109737911 intron variant T/C snv 0.54 7
rs1713985
REST
0.882 0.040 4 56920284 intron variant G/T snv 0.92 4
rs2285714
PLA2G12A
0.882 0.040 4 109717654 synonymous variant C/T snv 0.37 0.31 3
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs9332739
CYP21A2 ; C2-AS1 ; C2
0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 10
rs4151667
CFB ; CYP21A2
0.790 0.320 6 31946247 missense variant T/A snv 3.9E-02 3.4E-02 9
rs641153
CFB ; CYP21A2
0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 7
rs2072633
CFB ; CYP21A2 ; NELFE
0.807 0.320 6 31951801 3 prime UTR variant A/G snv 0.59 6
rs943080
LOC107986598
0.807 0.040 6 43858890 TF binding site variant C/T snv 0.61 6
rs833069
VEGFA
0.851 0.200 6 43774842 non coding transcript exon variant T/C;G snv 5
rs429608
CYP21A2 ; SKIV2L
0.851 0.160 6 31962685 intron variant G/A snv 0.14 0.16 4
rs1999930
FRK
0.882 0.040 6 116065971 intergenic variant C/A;G;T snv 3
rs4711751
LOC107986598
0.882 0.040 6 43860845 intergenic variant T/C snv 0.37 3
rs541862
CFB ; CYP21A2
0.882 0.160 6 31949174 non coding transcript exon variant T/C snv 0.12 3
rs547154
CYP21A2 ; C2 ; C2-AS1
0.882 0.160 6 31943161 intron variant G/T snv 0.12 3