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: rs397516975
rs397516975
ERBB2 ; MIR4728
2 0.925 0.080 17 39724728 inframe insertion -/ATACGTGATGGC delins 0.700 0
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2013 2013
dbSNP: rs1554350382
rs1554350382
EGFR ; EGFR-AS1
1 1.000 0.040 7 55181318 protein altering variant -/GTC ins 0.700 0
dbSNP: rs35201538
rs35201538 		1 1.000 0.040 9 33422490 intergenic variant -/T;TT delins 0.700 1.000 1 2019 2019
dbSNP: rs754284524
rs754284524
LOX ; SRFBP1
2 1.000 0.040 5 122074125 stop gained -/TACATGCTAGATTCATTTTAACTCAATACTGCCATTCAATTCTAGCAAC ins 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs587776805
rs587776805
ERBB2 ; MIR4728
1 1.000 0.040 17 39724745 inframe insertion -/TGTGGGCTC delins 0.700 0
dbSNP: rs11375254
rs11375254
TP63
3 0.882 0.080 3 189625454 intergenic variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs1057519785
rs1057519785
ALK
2 1.000 0.040 2 29222404 missense variant A/C snv 0.700 1.000 1 2012 2012
dbSNP: rs1057519909
rs1057519909
MAP2K1
7 0.790 0.240 15 66435116 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519928
rs1057519928
PIK3CA
8 0.807 0.200 3 179221147 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519939
rs1057519939
PIK3CA
10 0.776 0.160 3 179203763 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519987
rs1057519987
TP53
10 0.776 0.280 17 7673810 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs11591710
rs11591710 		3 0.882 0.160 10 103927874 intergenic variant A/C snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs1546550
rs1546550
RASSF8
1 1.000 0.040 12 26069812 3 prime UTR variant A/C snv 0.76 0.010 < 0.001 1 2007 2007
dbSNP: rs2523987
rs2523987
TRIM31 ; TRIM31-AS1
5 0.827 0.280 6 30112216 intron variant A/C snv 9.2E-02 0.700 1.000 1 2009 2009
dbSNP: rs425366
rs425366
CHL1
4 0.851 0.080 3 283727 intron variant A/C snv 0.56 0.010 1.000 1 2018 2018
dbSNP: rs6495314
rs6495314
CHRNB4 ; LOC112268142
4 0.925 0.080 15 78668187 intron variant A/C snv 0.35 0.700 1.000 1 2009 2009
dbSNP: rs735482
rs735482
ERCC1 ; CD3EAP
16 0.742 0.160 19 45408744 missense variant A/C snv 0.21 0.20 0.010 1.000 1 2017 2017
dbSNP: rs779318085
rs779318085
ALK
1 1.000 0.040 2 29193849 missense variant A/C snv 8.0E-06 4.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs8321
rs8321
ZNRD1
16 0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 0.700 1.000 1 2009 2009
dbSNP: rs985192
rs985192
ESR1
1 1.000 0.040 6 151962343 intron variant A/C snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs186305118
rs186305118
ERN1
1 1.000 0.040 17 64055926 missense variant A/C snv 1.0E-02; 6.8E-06 1.0E-02 0.700 0
dbSNP: rs1057519986
rs1057519986
TP53
10 0.776 0.240 17 7673811 missense variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520002
rs1057520002
TP53
20 0.695 0.360 17 7674242 missense variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs750664148
rs750664148
MYC ; CASC11
5 0.851 0.200 8 127738434 missense variant A/C;G snv 0.700 1.000 1 2016 2016