Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10 23
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 17
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 17
rs879255280
SMO
0.701 0.200 7 129206557 missense variant C/T snv 15
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 13
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 10
rs2151280
CDKN2B-AS1
0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 6
rs869025212
BAP1
0.827 0.200 3 52403428 frameshift variant G/- delins 6
rs12210050
LOC105374875
0.807 0.040 6 475489 non coding transcript exon variant C/T snv 0.11 5
rs7538876
PADI6
0.807 0.120 1 17395867 intron variant G/A snv 0.37 5
rs801114 0.827 0.120 1 228862088 downstream gene variant T/G snv 0.48 5
rs157935
LINC00513 ; LINC-PINT
0.851 0.040 7 130900794 intron variant T/G snv 0.28 4
rs16917546
LOC105378327 ; ZNF365
0.851 0.040 10 62637778 intron variant T/C snv 0.29 4
rs214782
TGM3 ; LOC105372503
0.851 0.040 20 2301324 intron variant G/A snv 0.73 4
rs59586681 0.851 0.040 20 2239664 intron variant A/G;T snv 0.34 4
rs7006527
RGS22
0.851 0.040 8 100012277 intron variant A/C;T snv 4
rs7335046 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 4
rs786203714
PALB2
0.925 0.200 16 23635095 stop gained A/T snv 4
rs12202284
LOC105374875
0.925 0.080 6 471136 intron variant C/A;T snv 3
rs104894040
SHH
0.882 0.160 7 155806509 missense variant A/C;G snv 2
rs104894049
SHH
0.925 0.120 7 155806527 missense variant T/A snv 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs121918347
SMO
0.851 0.080 7 129210500 missense variant G/T snv 1
rs137853214
CCNH ; RASA1
0.925 0.040 5 87349304 missense variant G/T snv 1