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: rs799917
rs799917
BRCA1
18 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.020 1.000 2 2013 2018
dbSNP: rs16941
rs16941
BRCA1
7 0.827 0.240 17 43092418 missense variant T/C;G snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.020 1.000 2 2012 2017
dbSNP: rs3813729
rs3813729
C1R ; C1RL
2 0.925 0.120 12 7089608 missense variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1785882
rs1785882
CARD16 ; LOC107984381
1 1.000 0.120 11 105052348 intron variant A/T snv 0.45 0.010 1.000 1 2009 2009
dbSNP: rs3733846
rs3733846
CARMN
6 0.807 0.200 5 149425059 non coding transcript exon variant T/C snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs3900115
rs3900115
CASP10
3 1.000 0.120 2 201185954 synonymous variant A/G snv 0.45 0.49 0.010 1.000 1 2007 2007
dbSNP: rs1049216
rs1049216
CASP3
9 0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2007 2007
dbSNP: rs6948
rs6948
CASP3
3 1.000 0.120 4 184627976 3 prime UTR variant G/T snv 0.48 0.010 1.000 1 2007 2007
dbSNP: rs3769821
rs3769821
CASP8
4 0.851 0.200 2 201258707 intron variant C/T snv 0.57 0.020 1.000 2 2011 2013
dbSNP: rs3834129
rs3834129
CASP8
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.020 1.000 2 2011 2013
dbSNP: rs113686495
rs113686495
CASP8
4 0.925 0.160 2 201258757 intron variant ATTCTGTC/- delins 0.010 1.000 1 2011 2011
dbSNP: rs13113
rs13113
CASP8
2 0.925 0.200 2 201287439 3 prime UTR variant T/A snv 0.33 0.010 1.000 1 2007 2007
dbSNP: rs6736233
rs6736233
CASP8
1 1.000 0.120 2 201254251 intron variant G/C snv 0.16 0.010 1.000 1 2009 2009
dbSNP: rs1052576
rs1052576
CASP9
9 0.807 0.200 1 15506048 missense variant T/A;C snv 0.53 0.010 1.000 1 2007 2007
dbSNP: rs4661636
rs4661636
CASP9
2 0.925 0.160 1 15496566 intron variant C/T snv 0.24 0.010 1.000 1 2009 2009
dbSNP: rs1801181
rs1801181
CBS
2 0.925 0.160 21 43060506 synonymous variant G/A snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs234706
rs234706
CBS
2 0.925 0.160 21 43065240 synonymous variant G/A snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs603965
rs603965
CCND1
14 0.732 0.440 11 69648142 splice region variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs6449182
rs6449182
CD38
6 0.807 0.160 4 15778830 intron variant C/G snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs16994592
rs16994592
CD70
1 1.000 0.120 19 6586487 intron variant T/C snv 9.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs13706
rs13706
CDC6
11 0.776 0.200 17 40300899 missense variant G/A;C snv 0.15; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs6002551
rs6002551
CENPM
1 1.000 0.120 22 41942148 intron variant G/A snv 0.20 0.010 1.000 1 2009 2009
dbSNP: rs1270942
rs1270942
CFB ; CYP21A2
11 0.742 0.440 6 31951083 non coding transcript exon variant A/G snv 7.5E-02 0.010 1.000 1 2009 2009