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: rs1057519780
rs1057519780
MTOR
1 1.000 0.120 1 11127800 missense variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519949
rs1057519949
RHEB
6 0.851 0.120 7 151490964 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1367215622
rs1367215622
PHLPP2
2 1.000 0.120 16 71714618 missense variant A/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs142548892
rs142548892
SFXN1
1 1.000 0.120 5 175509071 missense variant G/A;T snv 1.2E-05; 4.0E-06 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: rs587777900
rs587777900
MTOR
1 1.000 0.120 1 11114363 missense variant C/T snv 0.700 1.000 1 2014 2014
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: rs798766
rs798766
TACC3
6 0.851 0.120 4 1732512 intron variant T/C snv 0.76 0.010 1.000 1 2013 2013
dbSNP: rs1057519732
rs1057519732
MAP2K1
6 0.827 0.160 15 66436824 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: 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
dbSNP: rs1057519892
rs1057519892
ERBB3
5 0.851 0.160 12 56088558 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519893
rs1057519893
ERBB3
9 0.790 0.160 12 56085070 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519911
rs1057519911
MAPK1
10 0.776 0.160 22 21772875 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519920
rs1057519920
NFE2L2
7 0.790 0.160 2 177234232 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519931
rs1057519931
PIK3CA
6 0.827 0.160 3 179199141 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs121913468
rs121913468
ERBB2
7 0.827 0.160 17 39724008 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs759610249
rs759610249
FBXW7
8 0.790 0.160 4 152323032 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs786201419
rs786201419
TP53
8 0.790 0.160 17 7675180 missense variant C/A;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: rs1057519889
rs1057519889
EP300
6 0.807 0.200 22 41169525 missense variant G/A;T 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: rs1057519922
rs1057519922
NFE2L2
7 0.790 0.200 2 177234082 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519923
rs1057519923
NFE2L2
6 0.807 0.200 2 177234081 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519924
rs1057519924
NFE2L2
6 0.807 0.200 2 177234080 missense variant C/A snv 0.700 1.000 1 2016 2016