Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1340026226
AR
1.000 0.080 X 67711662 missense variant G/A snv 9.5E-06 2
rs1052667
ARHGAP35
0.882 0.040 19 47004177 3 prime UTR variant C/G;T snv 6
rs1040411
ATG5
1.000 0.120 6 106150148 intron variant G/A snv 0.47 3
rs4946728
ATG5
1.000 0.120 6 106142488 intron variant A/C snv 0.72 3
rs3804329
ATG5
1.000 0.080 6 106238552 intron variant A/G snv 0.15 2
rs2064863
AURKA
0.925 0.120 20 56387716 intron variant T/A;C;G snv 4
rs1800469
B9D2 ; TGFB1
0.547 0.760 19 41354391 intron variant A/G snv 0.69 70
rs4671393
BCL11A
0.790 0.400 2 60493816 intron variant A/C;G snv 9
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 484
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 31
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 23
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv 7
rs867748453
BRAF
7 140781608 missense variant G/A snv 1
rs16940
BRCA1
0.882 0.080 17 43093220 synonymous variant A/G snv 0.35 0.29 5
rs62625308
BRCA1
0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 2
rs1458766475
C1orf112 ; SELE
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41
rs172378
C1QA
0.790 0.240 1 22638945 synonymous variant A/G snv 0.49 0.51 11
rs41291957
CARMN ; MIR145 ; MIR143
0.882 0.200 5 149428827 intron variant G/A snv 0.12 7
rs3834129
CASP8
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs1213469537
CAV1
0.882 0.080 7 116559145 missense variant C/T snv 4.0E-06 1.4E-05 9
rs1172398253
CCN1
0.925 0.080 1 85582045 missense variant C/T snv 4.0E-06 4
rs1799864
CCR2
0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 66
rs3212986
CD3EAP ; ERCC1
0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs735482
CD3EAP ; ERCC1
0.742 0.160 19 45408744 missense variant A/C snv 0.21 0.20 16