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: rs397508983
rs397508983
BRCA1
2 1.000 17 43092959 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs398122710
rs398122710
BRCA2
1 13 32371100 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs555016384
rs555016384
CCR6
1 6 167136139 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs55680408
rs55680408
BRCA1
1 17 43095875 missense variant T/A;C snv 3.6E-05 2.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs587779003
rs587779003
MLH1
1 3 37004401 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs587782137
rs587782137
BRCA2
1 13 32316471 missense variant G/A;C snv 2.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs730881360
rs730881360
ATM
1 11 108227629 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs752908306
rs752908306
HERC2
1 15 28272372 missense variant G/A;C snv 8.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs786202676
rs786202676
CHEK2
2 22 28696956 missense variant T/A;G snv 0.700 1.000 1 2011 2011
dbSNP: rs7984952
rs7984952
USPL1
2 13 30657669 missense variant T/C snv 0.41 0.51 0.010 1.000 1 2013 2013
dbSNP: rs80357167
rs80357167
BRCA1
2 1.000 17 43094066 stop gained C/A;T snv 0.700 1.000 1 2004 2004
dbSNP: rs80358146
rs80358146
BRCA1
2 1.000 17 43104957 splice acceptor variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs80359603
rs80359603
BRCA2
2 1.000 13 32340907 frameshift variant G/- delins 0.700 1.000 1 2016 2016
dbSNP: rs80359706
rs80359706
BRCA2
3 1.000 13 32363522 frameshift variant -/T delins 0.700 1.000 1 2016 2016
dbSNP: rs886037784
rs886037784
BRCA1
2 1.000 17 43099803 frameshift variant A/- del 0.700 1.000 1 2016 2016
dbSNP: rs886037785
rs886037785
BRCA1
2 1.000 17 43091708 frameshift variant TACCT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886037786
rs886037786
BRCA1
2 1.000 17 43094231 frameshift variant -/G delins 0.700 1.000 1 2016 2016
dbSNP: rs886037787
rs886037787
BRCA1
2 1.000 17 43092961 stop gained A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs886037788
rs886037788
BRCA1
1 17 43091461 frameshift variant -/TCAA ins 0.700 1.000 1 2016 2016
dbSNP: rs886037789
rs886037789
BRCA1
1 17 43071159 frameshift variant T/- del 0.700 1.000 1 2016 2016
dbSNP: rs886037790
rs886037790
BRCA1
2 1.000 17 43071202 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886037797
rs886037797
BRCA2
1 13 32332667 frameshift variant AACTAACC/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886037798
rs886037798
BRCA2
2 1.000 13 32340886 frameshift variant -/C delins 0.700 1.000 1 2016 2016
dbSNP: rs886037799
rs886037799
BRCA2
2 1.000 13 32338503 frameshift variant AT/- del 0.700 1.000 1 2016 2016
dbSNP: rs886037800
rs886037800
BRCA2
2 1.000 13 32338395 frameshift variant TT/-;TTT delins 0.700 1.000 1 2016 2016