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 0.100 0.833 42 2003 2018
dbSNP: rs1414323823
rs1414323823
CYP1A1
4 0.851 0.160 15 74722772 frameshift variant -/TCTCGGT ins 4.0E-06 0.020 1.000 2 2011 2015
dbSNP: rs10623258
rs10623258
ADSS1
1 1.000 0.080 14 104745924 non coding transcript exon variant -/TT ins 0.56 0.700 1.000 1 2017 2017
dbSNP: rs11374964
rs11374964
POGLUT3
1 1.000 0.080 11 108474788 3 prime UTR variant -/A ins 2.4E-05; 0.47 0.43 0.700 1.000 1 2017 2017
dbSNP: rs3215684
rs3215684
PTPN1
2 0.925 0.080 20 50578329 intron variant -/T;TC ins 0.62 0.010 1.000 1 2019 2019
dbSNP: rs483353122
rs483353122
BRCA2
4 0.851 0.200 13 32363410 frameshift variant -/AG ins 0.010 1.000 1 2019 2019
dbSNP: rs70991108
rs70991108
DHFR ; MSH3
6 0.807 0.280 5 80654344 intron variant -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT ins 0.51 0.010 1.000 1 2012 2012
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.833 42 2003 2018
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.020 1.000 2 2013 2015
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.020 1.000 2 2013 2015
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2012 2015
dbSNP: rs386654966
rs386654966
BARD1
3 0.882 0.080 2 214767531 missense variant CA/AG;TG mnv 0.020 1.000 2 2003 2006
dbSNP: rs386675647
rs386675647
UGT2B7
10 0.790 0.240 4 69098619 missense variant AT/TC mnv 0.010 1.000 1 2011 2011
dbSNP: rs796096871
rs796096871
AKAP10
6 0.807 0.200 17 19909228 missense variant TG/CA mnv 0.010 1.000 1 2007 2007
dbSNP: rs3834129
rs3834129
CASP8
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.050 1.000 5 2008 2019
dbSNP: rs3838646
rs3838646
TTTY14
8 0.827 0.320 Y 18991182 intron variant CA/- del 0.020 0.500 2 2014 2014
dbSNP: rs80357796
rs80357796
BRCA1
11 0.752 0.240 17 43094464 frameshift variant T/- del 0.020 0.500 2 2002 2008
dbSNP: rs112843513
rs112843513
TOPBP1
4 0.851 0.120 3 133600730 3 prime UTR variant G/- del 0.010 1.000 1 2013 2013
dbSNP: rs11288072
rs11288072
EBF1
1 1.000 0.080 5 159008453 intron variant A/- del 0.25 0.700 1.000 1 2017 2017
dbSNP: rs146817970
rs146817970
ATG10
1 1.000 0.080 5 82217129 intron variant A/- del 0.19 0.700 1.000 1 2017 2017
dbSNP: rs16405
rs16405
BTRC
4 0.882 0.120 10 101553963 3 prime UTR variant AACAGTGGA/- del 0.31 0.010 1.000 1 2015 2015
dbSNP: rs2307561
rs2307561
CHST9 ; AQP4-AS1
1 1.000 0.080 18 26923543 intron variant AGTGTT/- del 0.28 0.700 1.000 1 2017 2017
dbSNP: rs5837757
rs5837757 		1 1.000 0.080 2 200849597 upstream gene variant A/- del 0.15 0.700 1.000 1 2017 2017
dbSNP: rs6413441
rs6413441
IGFBP3
2 0.925 0.080 7 45915652 intron variant T/- del 0.57 0.010 1.000 1 2007 2007
dbSNP: rs67958007
rs67958007 		1 1.000 0.080 10 9046151 intergenic variant G/- del 0.12 0.700 1.000 1 2017 2017