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: rs80359601
rs80359601
BRCA2
8 0.807 0.360 13 32340890 frameshift variant -/A;NNNNNNNN ins 4.1E-06 0.700 0
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2013 2018
dbSNP: rs11571658
rs11571658
BRCA2
6 0.851 0.240 13 32340630 frameshift variant TT/- del 2.8E-05 0.700 0
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: rs143046984
rs143046984
PCNX1 ; LOC105370557
9 0.790 0.080 14 70937529 intron variant -/A delins 4.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs202110856
rs202110856
ERAP1
9 0.790 0.080 5 96794169 intron variant -/C delins 2.1E-05 0.700 1.000 1 2015 2015
dbSNP: rs377429877
rs377429877
STARD13
10 0.776 0.080 13 33518027 intron variant -/TAA delins 6.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs58791712
rs58791712 		9 0.790 0.080 5 40281696 intergenic variant T/-;TT;TTT delins 0.700 1.000 1 2019 2019
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.700 1.000 14 2007 2019
dbSNP: rs3802842
rs3802842
COLCA2 ; COLCA1
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.700 1.000 8 2008 2019
dbSNP: rs4939827
rs4939827
SMAD7
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.700 1.000 8 2007 2019
dbSNP: rs16892766
rs16892766 		18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.700 1.000 6 2008 2019
dbSNP: rs704017
rs704017
ZMIZ1-AS1
10 0.776 0.080 10 79059375 intron variant A/G snv 0.55 0.700 1.000 6 2014 2019
dbSNP: rs11255841
rs11255841 		11 0.776 0.080 10 8697617 intergenic variant T/A snv 0.25 0.700 1.000 5 2014 2019
dbSNP: rs6687758
rs6687758 		11 0.763 0.200 1 221991606 regulatory region variant A/G snv 0.20 0.700 1.000 5 2010 2019
dbSNP: rs7229639
rs7229639
SMAD7
13 0.763 0.080 18 48924606 intron variant A/G snv 0.87 0.700 1.000 5 2014 2019
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.700 1.000 4 2007 2018
dbSNP: rs10774214
rs10774214
CCND2-AS1
9 0.790 0.080 12 4259186 intron variant T/C snv 0.54 0.700 1.000 4 2013 2019
dbSNP: rs10795668
rs10795668
LOC105376400
17 0.724 0.160 10 8659256 upstream gene variant G/A snv 0.24 0.700 1.000 4 2008 2019
dbSNP: rs11196172
rs11196172
TCF7L2
18 0.708 0.200 10 112967084 intron variant G/A snv 0.13 0.700 1.000 4 2014 2019
dbSNP: rs174537
rs174537
MYRF ; TMEM258
23 0.708 0.400 11 61785208 non coding transcript exon variant G/T snv 0.28 0.700 1.000 4 2014 2019
dbSNP: rs2423279
rs2423279 		10 0.790 0.080 20 7831703 downstream gene variant T/C snv 0.29 0.700 1.000 4 2013 2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019
dbSNP: rs3217810
rs3217810
CCND2
10 0.776 0.080 12 4279105 intron variant C/T snv 8.7E-02 0.700 1.000 4 2013 2019
dbSNP: rs3824999
rs3824999
POLD3
9 0.790 0.080 11 74634505 intron variant T/G snv 0.40 0.700 1.000 4 2012 2019