Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1501299
ADIPOQ ; ADIPOQ-AS1
0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs12733285
ADIPOR1
0.776 0.120 1 202952912 intron variant C/T snv 0.26 12
rs1342387
ADIPOR1
0.776 0.120 1 202945228 intron variant T/C snv 0.53 12
rs4994
ADRB3
0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 65
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 42
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs777980327
APC
0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 21
rs459552
APC
0.752 0.320 5 112841059 missense variant T/A;G snv 0.79 14
rs1380087059
APC
0.882 0.160 5 112837749 missense variant G/C snv 4.0E-06 3
rs587781394
APC
0.882 0.160 5 112837812 missense variant G/A;C snv 4.0E-06; 8.0E-06 3
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1724120
ASTL ; DUSP2
0.925 0.080 2 96143592 3 prime UTR variant T/C snv 0.53 2
rs1044129
AVEN ; RYR3
0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv 9
rs1800469
B9D2 ; TGFB1
0.547 0.760 19 41354391 intron variant A/G snv 0.69 78
rs2304204
BCL2L12 ; IRF3
0.882 0.160 19 49665763 5 prime UTR variant T/C snv 0.39 3
rs9904341
BIRC5
0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06 20
rs8073069
BIRC5
0.807 0.200 17 78213692 upstream gene variant G/C snv 0.33 7
rs17878467
BIRC5
0.925 0.080 17 78214076 upstream gene variant C/G;T snv 6
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
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
rs1238788540
BRAF
0.925 0.080 7 140800368 missense variant G/C snv 4.0E-06 7.0E-06 2
rs8176318
BRCA1
0.807 0.120 17 43045257 3 prime UTR variant C/A snv 0.34 0.29 6
rs13281615
CASC8 ; POU5F1B ; PCAT1 ; CASC21
0.716 0.360 8 127343372 intron variant A/G snv 0.43 18
rs1045485
CASP8
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34