Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
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
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv 62
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs1800925
IL13 ; TH2LCRR
0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 37
rs1127354
ITPA
0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 26
rs759191907
LOC105379841 ; ENG
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 25
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 23
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 20
rs4244285
CYP2C19
0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18 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
rs4149117
SLCO1B3-SLCO1B7 ; SLCO1B3
0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 15
rs1057910
CYP2C9
0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 12
rs1556620697
SH2D1A ; STAG2
0.827 0.360 X 124365758 splice region variant C/G snv 10
rs1142345
TPMT
0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02 9
rs34743033
TYMSOS ; TYMS
0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins 8