Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs1057519834
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs3219489
MUTYH
0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 24
rs768827923
PIK3CD
0.851 0.080 1 9721816 missense variant T/G snv 6
rs2145418 0.882 0.080 1 118422631 intergenic variant C/A snv 0.78 3
rs4658973
WDR3 ; SPAG17
0.882 0.080 1 117956431 intron variant T/G snv 0.34 3
rs2241880
SCARNA5 ; ATG16L1
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 37
rs1143623
IL1B
0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 29
rs11674595
IL1R2
0.763 0.200 2 101994530 intron variant T/C snv 0.22 13
rs2072472
IL1R2
0.732 0.200 2 102026557 intron variant A/G snv 0.24 13
rs966423
DIRC3
0.776 0.200 2 217445617 intron variant C/G;T snv 11
rs1418810723
FN1
0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06 9
rs3783521
IL1A
0.807 0.200 2 112786000 upstream gene variant G/A snv 0.26 8
rs3917225
IL1R1
0.807 0.160 2 102152842 intron variant A/G snv 0.36 6
rs1248131654
RBMS1
0.851 0.080 2 160367217 missense variant G/A snv 1.4E-05 4
rs63750447
MLH1
0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04 17
rs17849071
PIK3CA
0.776 0.160 3 179218439 intron variant T/G snv 7.9E-02 8
rs1064795638
BAP1
0.851 0.080 3 52403251 stop gained G/A snv 7
rs2221903
IL21-AS1 ; IL21
0.752 0.360 4 122617757 intron variant C/T snv 0.77 12
rs12508721
IL21-AS1
0.742 0.360 4 122623509 intron variant C/T snv 0.24 11
rs4833837
IL21
0.827 0.200 4 122615808 synonymous variant G/A snv 0.74 0.77 5
rs13143866
IL21 ; IL21-AS1
0.851 0.200 4 122619603 intron variant G/A snv 0.24 4