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
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs6983267
PCAT1 ; CCAT2 ; CASC8 ; POU5F1B
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 42
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 32
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 31
rs3219489
MUTYH
0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 24
rs1801166
APC
0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 17
rs368939818
FOLH1
0.763 0.280 11 49156734 missense variant G/A snv 4.0E-05 2.1E-05 13
rs755001634
FOLH1
0.763 0.280 11 49154384 stop gained G/A snv 1.2E-05 13
rs7763881
HULC ; LOC100506207
0.776 0.160 6 8653014 non coding transcript exon variant A/C snv 0.44 11
rs770649674
APC
0.807 0.120 5 112827177 missense variant A/G snv 4.0E-06 7.0E-06 6
rs587782868
APC
0.827 0.200 5 112827951 missense variant G/A;C snv 3.2E-05 5
rs776197565
APC
0.827 0.120 5 112819214 missense variant G/C;T snv 4.0E-06; 4.0E-06 5
rs145236923
GALNT12
0.851 0.120 9 98831947 missense variant G/A snv 1.2E-03 1.3E-03 4