Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80359601
BRCA2
0.807 0.360 13 32340890 frameshift variant -/A;NNNNNNNN ins 4.1E-06 8
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs12951053
TP53
0.732 0.160 17 7674089 intron variant A/C snv 0.10 14
rs104894040
SHH
0.882 0.160 7 155806509 missense variant A/C;G snv 4
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs179008
TLR7
0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 14
rs7006527
RGS22
0.851 0.040 8 100012277 intron variant A/C;T snv 4
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs3769823
CASP8
0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65 6
rs137853215
RASA1 ; CCNH
0.925 0.040 5 87349309 missense variant A/G snv 2
rs137853216
CCNH ; RASA1
0.925 0.040 5 87349312 missense variant A/G snv 2
rs59586681 0.851 0.040 20 2239664 intron variant A/G;T snv 0.34 4
rs786203714
PALB2
0.925 0.200 16 23635095 stop gained A/T snv 4
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs700635
FLACC1
0.925 0.040 2 201288502 3 prime UTR variant C/A snv 0.72 3
rs16891982
SLC45A2
0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 13
rs1805007
MC1R
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 25
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 23
rs214803
TGM3
0.851 0.040 20 2309687 missense variant C/A;G;T snv 0.82; 4.0E-06 4
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs12202284
LOC105374875
0.925 0.080 6 471136 intron variant C/A;T snv 3
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41