Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
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
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv 62
rs361525
TNF
0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 62
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10 38
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 37
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 23
rs879255280
SMO
0.701 0.200 7 129206557 missense variant C/T snv 22
rs2151280
CDKN2B-AS1
0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 16
rs4796793
STAT3
0.716 0.320 17 42390192 upstream gene variant G/C snv 0.67 16
rs12951053
TP53
0.732 0.160 17 7674089 intron variant A/C snv 0.10 14
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 10
rs12210050
LOC105374875
0.807 0.040 6 475489 non coding transcript exon variant C/T snv 0.11 8
rs2303425
MSH2
0.790 0.120 2 47403074 5 prime UTR variant T/C snv 0.10 8
rs7335046 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 7
rs1036980234
PTCH1
0.827 0.160 9 95447156 missense variant G/A snv 6
rs16917546
LOC105378327 ; ZNF365
0.851 0.040 10 62637778 intron variant T/C snv 0.29 6
rs7538876
PADI6
0.807 0.120 1 17395867 intron variant G/A snv 0.37 6
rs869025212
BAP1
0.827 0.200 3 52403428 frameshift variant G/- delins 6
rs801114 0.827 0.120 1 228862088 downstream gene variant T/G snv 0.48 5
rs104894040
SHH
0.882 0.160 7 155806509 missense variant A/C;G snv 4