Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12163565
DNAH1
0.827 0.160 3 52396510 missense variant G/A snv 0.19 0.16 5
rs390802
DNAH1
0.827 0.160 3 52397655 intron variant G/A snv 0.16 5
rs2228611
DNMT1
0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 19
rs8101626
DNMT1
1.000 0.120 19 10135353 intron variant G/A snv 0.64 1
rs1550117
DNMT3A
0.790 0.320 2 25343038 upstream gene variant A/G;T snv 11
rs34048824
DNMT3A
1.000 0.120 2 25312674 intron variant T/C snv 0.42 1
rs1569686
DNMT3B
0.752 0.400 20 32779273 intron variant G/A;C;T snv 15
rs4903064
DPF3
0.925 0.120 14 72812712 intron variant T/C snv 0.23 2
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 35
rs34917480
EML6 ; RTN4
0.925 0.160 2 54972426 3 prime UTR variant -/TTA ins 7.0E-06 3
rs1267580705
EPAS1
0.925 0.240 2 46360680 missense variant G/A snv 4
rs11894252
EPAS1
0.925 0.120 2 46306237 intron variant T/A;C;G snv 3
rs12617313
EPAS1
0.925 0.120 2 46332637 intron variant A/G;T snv 2
rs7579899
EPAS1
0.925 0.120 2 46310465 intron variant A/G snv 0.52 2
rs9679290
EPAS1
0.925 0.120 2 46330505 intron variant G/C snv 0.41 2
rs1802074
EPDR1 ; SFRP4
0.925 0.120 7 37907501 missense variant C/T snv 0.20 0.24 2
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1397145500
ERN1
1.000 0.120 17 64066782 missense variant T/C snv 4.0E-06 1.4E-05 1
rs4381241
FAF1
0.925 0.120 1 50441766 intron variant T/C snv 0.51 2
rs2981582
FGFR2
0.695 0.360 10 121592803 intron variant A/G snv 0.58 21
rs758175953
FLCN
0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05 6
rs1060502375
FLCN
0.882 0.120 17 17228023 missense variant G/T snv 4.0E-06 3
rs1131690838
FLCN
0.925 0.120 17 17228135 frameshift variant C/- del 3
rs879255658
FLCN
0.882 0.160 17 17228135 start lost C/G snv 3
rs756787389
FLCN
0.925 0.120 17 17219129 missense variant C/T snv 1.2E-05 4.9E-05 2