Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs202110856
ERAP1
0.790 0.080 5 96794169 intron variant -/C delins 2.1E-05 9
rs58791712 0.790 0.080 5 40281696 intergenic variant T/-;TT;TTT delins 9
rs34743033
TYMSOS ; TYMS
0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins 8
rs1114167806
MSH2
0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 7
rs1057517457
MUTYH
0.851 0.120 1 45332804 frameshift variant GCCAGCCCAG/- delins 7.0E-06 6
rs80359596
BRCA2
0.827 0.240 13 32340817 frameshift variant TCTC/-;TC;TCTCTC delins 6
rs1057519365
BRIP1
0.851 0.320 17 61780931 frameshift variant TT/- delins 5
rs11466445
TGFBR1
0.851 0.160 9 99105256 inframe insertion GCGGCGGCGGCGGCG/-;GCG;GCGGCG;GCGGCGGCG;GCGGCGGCGGCG;GCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCGGCG delins 5
rs6147150
ERBB4
0.827 0.160 2 211380365 3 prime UTR variant -/AAAATAGGATTG delins 5
rs771306418
CAMK1 ; OGG1
0.851 0.120 3 9765885 splice acceptor variant -/C delins 5
rs113686495
CASP8
0.925 0.160 2 201258757 intron variant ATTCTGTC/- delins 4
rs587778536
MUTYH
0.882 0.120 1 45331700 frameshift variant G/- delins 6.4E-05 4.2E-05 4
rs587780078
MUTYH
0.882 0.120 1 45331514 frameshift variant -/CC delins 1.6E-04 2.7E-04 4
rs63749959
MLH1
0.925 0.160 3 37008858 frameshift variant AA/-;A;AAA delins 4
rs886040557
BRCA2
0.882 0.240 13 32339317 frameshift variant T/- delins 4
rs34296044
EXO1
0.925 0.080 1 241885371 frameshift variant C/- delins 3
rs387906351
BCL10
0.882 0.160 1 85270828 frameshift variant T/-;TT delins 3
rs1567755946
AXIN2
0.925 0.080 17 65537563 frameshift variant -/CGCGGGAGGCAGC delins 2
rs267606674
AXIN2
0.925 0.160 17 65536467 frameshift variant C/-;CC delins 2
rs398122840
BAX
0.925 0.160 19 48955714 frameshift variant GGGGGGG/-;GGGGGG;GGGGGGGG delins 2
rs67491583
PCAT1 ; POU5F1B ; CCAT2 ; CASC8
0.925 0.080 8 127401984 non coding transcript exon variant GA/- delins 2
rs1057519366
FANCC
1.000 0.080 9 95150014 frameshift variant G/-;GG delins 1
rs1427471466
TP53
1.000 0.080 17 7674183 frameshift variant G/- delins 1
rs149941240
CHRNA5
1.000 0.080 15 78591694 intron variant CCTT/- delins 6.3E-03 1
rs28720239
LOC105377621 ; NFKB1
1.000 0.080 4 102500998 non coding transcript exon variant ATTG/- delins 1