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: rs714
rs714
DCC
4 0.925 0.080 18 52992904 intron variant A/G snv 0.76 0.010 1.000 1 2013 2013
dbSNP: rs121909224
rs121909224
PTEN
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 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: rs397516436
rs397516436
TP53
34 0.641 0.440 17 7674894 stop gained G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs786201059
rs786201059
TP53
20 0.701 0.360 17 7673764 stop gained C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519991
rs1057519991
TP53
26 0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 0.710 1.000 2 2009 2016
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894231
rs104894231
HRAS ; LRRC56
9 0.776 0.360 11 533467 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519728
rs1057519728
MAP2K1
5 0.851 0.120 15 66435103 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519738
rs1057519738
ERBB2 ; MIR4728
10 0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519816
rs1057519816
ERBB2
14 0.763 0.200 17 39711955 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519862
rs1057519862
ERBB2
5 0.851 0.160 17 39723405 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519875
rs1057519875
ACVR1
2 0.925 0.120 2 157770385 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519881
rs1057519881
CDKN2A
8 0.776 0.240 9 21971111 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519882
rs1057519882
CDKN2A
7 0.807 0.200 9 21974678 missense variant C/A 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: rs1057519884
rs1057519884
CREBBP
11 0.752 0.240 16 3738616 missense variant C/A;T 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: rs1057519890
rs1057519890
ERBB2
8 0.807 0.200 17 39723966 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519891
rs1057519891
ERBB3
6 0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016