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: rs1801018
rs1801018
BCL2
6 0.851 0.240 18 63318646 synonymous variant T/C snv 0.37 0.32 0.010 1.000 1 2017 2017
dbSNP: rs4987853
rs4987853
BCL2
1 1.000 0.120 18 63126422 3 prime UTR variant T/C;G snv 0.23 0.010 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913338
rs121913338
BRAF
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913357
rs121913357
BRAF
12 0.742 0.320 7 140781603 stop gained C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913361
rs121913361
BRAF
7 0.807 0.280 7 140753349 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2015 2015
dbSNP: rs397507483
rs397507483
BRAF
13 0.790 0.400 7 140753348 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs397516896
rs397516896
BRAF
11 0.763 0.360 7 140753355 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs80359601
rs80359601
BRCA2
8 0.807 0.360 13 32340890 frameshift variant -/A;NNNNNNNN ins 4.1E-06 0.700 0
dbSNP: rs9642880
rs9642880
CASC11
9 0.776 0.240 8 127705823 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs750802459
rs750802459
CASP3
2 1.000 0.120 4 184635342 frameshift variant TCAGGATAATCCATTTTATAACTGTTGTCCAGGGATATTCCAGAGTC/- delins 5.6E-05 0.010 1.000 1 2000 2000
dbSNP: rs1057519881
rs1057519881
CDKN2A
8 0.776 0.240 9 21971111 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519883
rs1057519883
CDKN2A
14 0.742 0.280 9 21971120 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913385
rs121913385
CDKN2A
9 0.763 0.240 9 21971112 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs34968276
rs34968276
CDKN2A
9 0.776 0.240 9 21971110 stop gained G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519956
rs1057519956
CNOT9
5 0.827 0.200 2 218583025 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519957
rs1057519957
CNOT9
5 0.827 0.200 2 218583026 missense variant C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
CREBBP
11 0.752 0.240 16 3738616 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
CREBBP
12 0.742 0.360 16 3738617 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519886
rs1057519886
CTNNB1
11 0.752 0.240 3 41224609 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913228
rs121913228
CTNNB1
14 0.742 0.200 3 41224621 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913396
rs121913396
CTNNB1
13 0.732 0.200 3 41224607 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913400
rs121913400
CTNNB1
26 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016