Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs70991108
MSH3 ; DHFR
0.807 0.280 5 80654344 intron variant -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT ins 0.51 6
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs727503094
LRRC56 ; HRAS
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
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
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 31
rs386675647
UGT2B7
0.790 0.240 4 69098619 missense variant AT/TC mnv 10
rs35502531
MLH1
0.827 0.160 3 37047639 missense variant AA/GC mnv 8
rs796096871
AKAP10
0.807 0.200 17 19909228 missense variant TG/CA mnv 6
rs3834129
CASP8
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs587776642
BUB1
1.000 0.080 2 110638153 frameshift variant A/- del 1
rs28362491
LOC105377621 ; NFKB1
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs145204276
ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs3783553
IL1A
0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs28360071
XRCC4
0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 18
rs8175347
UGT1A9 ; UGT1A1 ; UGT1A6 ; UGT1A10 ; UGT1A8 ; UGT1A3 ; UGT1A5 ; UGT1A7 ; UGT1A4
0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 16
rs28360317
XRCC4
0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 15
rs121913224
APC
0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 14
rs17860508
LOC285626
0.752 0.360 5 159333192 intron variant TTAGAG/GC delins 11
rs10680577
RAB4B-EGLN2 ; EGLN2
0.776 0.160 19 40798690 intron variant -/TACT delins 10
rs377429877
STARD13
0.776 0.080 13 33518027 intron variant -/TAA delins 6.0E-02 10
rs143046984
LOC105370557 ; PCNX1
0.790 0.080 14 70937529 intron variant -/A delins 4.2E-02 9