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
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10 23
rs1126809
LOC107984363 ; TYR
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 20
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
rs1805007
MC1R
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 16
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
rs16891982
SLC45A2
0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 9
rs80359601
BRCA2
0.807 0.360 13 32340890 frameshift variant -/A;NNNNNNNN ins 4.1E-06 8
rs869025212
BAP1
0.827 0.200 3 52403428 frameshift variant G/- delins 6
rs2151280
CDKN2B-AS1
0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 6
rs801114 0.827 0.120 1 228862088 downstream gene variant T/G snv 0.48 5
rs775248597
ATM
0.851 0.120 11 108229185 stop gained C/G;T snv 8.1E-06 5
rs12210050
LOC105374875
0.807 0.040 6 475489 non coding transcript exon variant C/T snv 0.11 5
rs1800407
OCA2
0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 5
rs7538876
PADI6
0.807 0.120 1 17395867 intron variant G/A snv 0.37 5
rs59586681 0.851 0.040 20 2239664 intron variant A/G;T snv 0.34 4
rs7335046 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 4
rs778031266
ATM ; C11orf65
0.882 0.360 11 108316114 splice donor variant G/A snv 4.0E-06 4
rs3769823
CASP8
0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65 4
rs157935
LINC00513 ; LINC-PINT
0.851 0.040 7 130900794 intron variant T/G snv 0.28 4