Disease: Malignant Neoplasms
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
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs3834129
CASP8
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs779315943
DNMT3A
0.882 0.160 2 25247708 frameshift variant TTTCC/- del 5
rs79071878
LOC105379176 ; IL4
0.827 0.240 5 132680652 intron variant ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/- del 7
rs10680577
RAB4B-EGLN2 ; EGLN2
0.776 0.160 19 40798690 intron variant -/TACT delins 10
rs145204276
ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs199971565
MIR302A ; MIR302D ; MIR302CHG ; MIR302C ; LARP7 ; MIR367 ; MIR302B
0.925 0.080 4 112648384 mature miRNA variant ACTT/- delins 2.1E-02 3
rs28360071
XRCC4
0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 18
rs28362491
LOC105377621 ; NFKB1
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs3783553
IL1A
0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs10074991
PRKAA1
0.851 0.120 5 40790449 intron variant G/A snv 0.31 7
rs1016343
PCAT2 ; PCAT1 ; PRNCR1 ; CASC19
0.807 0.240 8 127081052 non coding transcript exon variant C/T snv 0.20 8
rs1042028
SULT1A1
0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 30
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1047768
ERCC5 ; BIVM-ERCC5
0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 20
rs1047840
EXO1
0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 19
rs1047972
AURKA
0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 19
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs1050450
GPX1
0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 43
rs10505477
CASC8 ; PCAT1 ; POU5F1B
0.658 0.400 8 127395198 intron variant A/G snv 0.40 31
rs1051740
EPHX1
0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56