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
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
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
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 40
rs4646903
CYP1A1
0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 36
rs2031920
LOC107984284 ; CYP2E1
0.695 0.240 10 133526341 non coding transcript exon variant C/T snv 3.1E-02 20
rs10074991
PRKAA1
0.851 0.120 5 40790449 intron variant G/A snv 0.31 7
rs1924966 0.807 0.080 13 72432915 intergenic variant T/G snv 0.33 6
rs115797771
KLF5
0.807 0.080 13 73064505 intron variant A/C snv 5.8E-02 6