Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.080 0.750 8 2005 2014
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.080 0.750 8 2005 2014
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2009 2013
dbSNP: rs112843513
rs112843513
TOPBP1
4 0.851 0.120 3 133600730 3 prime UTR variant G/- del 0.010 1.000 1 2014 2014
dbSNP: rs370989584
rs370989584 		1 1.000 0.080 4 133040031 intergenic variant T/- del 8.8E-03 0.700 1.000 1 2018 2018
dbSNP: rs864622121
rs864622121
MSH2
2 1.000 0.080 2 47475228 frameshift variant GT/- del 0.010 1.000 1 2002 2002
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs63750086
rs63750086
MSH2
5 0.882 0.200 2 47429891 frameshift variant AG/- del 0.700 0
dbSNP: rs80357929
rs80357929
BRCA1
4 0.851 0.200 17 43092663 frameshift variant A/- del 0.700 0
dbSNP: rs35286446
rs35286446
LINC00824
1 1.000 0.080 8 128433618 intron variant TATATA/-;TATA;TATATATA;TATATATATA delins 0.700 1.000 1 2018 2018
dbSNP: rs376674848
rs376674848 		1 1.000 0.080 12 84220725 intron variant -/ATGTGT delins 0.700 1.000 1 2018 2018
dbSNP: rs3783553
rs3783553
IL1A
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2016 2016
dbSNP: rs571866661
rs571866661 		1 1.000 0.080 11 77315297 downstream gene variant TTTTTTTTTTTTTTTTT/-;T;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT delins 8.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs6149499
rs6149499
LOC101929006 ; LOC105375005
1 1.000 0.080 6 29288284 intron variant AT/-;ATAT;ATATAT;ATATATCATGTATATATATATATAT;ATATCATGTATATATATATATAT delins 0.700 1.000 1 2018 2018
dbSNP: rs8175347
rs8175347
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
16 0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 0.010 1.000 1 2008 2008
dbSNP: rs1431264077
rs1431264077
MLH3
2 0.925 0.200 14 75048771 frameshift variant C/- delins 4.0E-06 0.700 0
dbSNP: rs1564568660
rs1564568660
PTEN
1 1.000 0.080 10 87961101 frameshift variant T/- delins 0.700 0
dbSNP: rs587776650
rs587776650
NBN
11 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 0
dbSNP: rs587776701
rs587776701
MSH3
2 0.925 0.080 5 80675096 frameshift variant A/-;AA delins 2.1E-05 0.700 0
dbSNP: rs80359306
rs80359306
BRCA2
6 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.080 0.750 8 2005 2014
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.050 1.000 5 2004 2015
dbSNP: rs1800440
rs1800440
CYP1B1
29 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 0.050 1.000 5 2004 2015
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.050 0.800 5 2004 2015
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.040 1.000 4 2014 2018