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: rs397517112
rs397517112
EGFR ; EGFR-AS1
1 1.000 0.080 7 55181320 protein altering variant -/ACC delins 0.700 1.000 3 2005 2011
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 0.070 1.000 7 2006 2018
dbSNP: rs397517116
rs397517116
EGFR ; EGFR-AS1
1 1.000 0.080 7 55181325 inframe insertion -/CACGTG delins 0.700 1.000 2 2005 2006
dbSNP: rs397517114
rs397517114
EGFR ; EGFR-AS1
1 1.000 0.080 7 55181323 protein altering variant -/CCCACG delins 0.700 1.000 1 2005 2005
dbSNP: rs397516976
rs397516976
ERBB2 ; MIR4728
1 1.000 0.080 17 39724733 inframe insertion -/CTCCGTGATGGC delins 0.700 1.000 2 2004 2012
dbSNP: rs1554350366
rs1554350366
EGFR ; EGFR-AS1
1 1.000 0.080 7 55181324 protein altering variant -/GCCACG delins 0.700 1.000 1 2005 2005
dbSNP: rs397516982
rs397516982
ERBB2 ; MIR4728
1 1.000 0.080 17 39724749 inframe insertion -/GGCTCCCCA delins 0.700 1.000 3 2004 2012
dbSNP: rs397516981
rs397516981
ERBB2 ; MIR4728
1 1.000 0.080 17 39724748 inframe insertion -/GGGCTCCCC delins 0.700 1.000 5 2005 2012
dbSNP: rs397517111
rs397517111
EGFR ; EGFR-AS1
1 1.000 0.080 7 55181319 inframe insertion -/GGGTTG ins 0.700 0
dbSNP: rs5879422
rs5879422
DCBLD1
1 1.000 0.080 6 117463495 intron variant -/GT delins 0.54 0.700 1.000 1 2019 2019
dbSNP: rs397516977
rs397516977
ERBB2 ; MIR4728
1 1.000 0.080 17 39724731 inframe insertion -/TACGTGATGGCT delins 0.700 0
dbSNP: rs10680577
rs10680577
EGLN2 ; RAB4B-EGLN2
10 0.776 0.160 19 40798690 intron variant -/TACT delins 0.020 1.000 2 2014 2019
dbSNP: rs727502902
rs727502902
BRAF
4 0.882 0.080 7 140753338 inframe insertion -/TAG delins 4.0E-06 0.700 1.000 6 2009 2012
dbSNP: rs397517106
rs397517106
EGFR ; EGFR-AS1
1 1.000 0.080 7 55181287 coding sequence variant -/TCCAGGAAGCCT delins 0.700 1.000 1 2008 2008
dbSNP: rs1555618025
rs1555618025
ERBB2 ; MIR4728
1 1.000 0.080 17 39724733 inframe insertion -/TCCGTGATGGCT delins 0.700 0
dbSNP: rs397516979
rs397516979
ERBB2 ; MIR4728
2 1.000 0.080 17 39724744 protein altering variant -/TCT;TGT;TTT ins 0.700 1.000 2 2005 2006
dbSNP: rs34917480
rs34917480
RTN4 ; EML6
3 0.925 0.160 2 54972426 3 prime UTR variant -/TTA ins 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs28381975
rs28381975
PDCD6IP ; LOC105377023
5 0.827 0.200 3 33798239 intron variant -/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA delins 0.010 1.000 1 2014 2014
dbSNP: rs397516978
rs397516978
ERBB2 ; MIR4728
1 1.000 0.080 17 39724738 frameshift variant A/- del 0.700 0
dbSNP: rs182073550
rs182073550
CHRNA9
1 1.000 0.080 4 40337027 intron variant A/-;AA;AAA delins 1.2E-02 0.010 1.000 1 2014 2014
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: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.050 0.800 5 2010 2019
dbSNP: rs1057519729
rs1057519729
MAP2K1
6 0.827 0.080 15 66435113 missense variant A/C snv 0.720 1.000 4 1995 2016
dbSNP: rs984755949
rs984755949
COL11A2
1 1.000 0.080 6 33172302 missense variant A/C snv 0.030 1.000 3 2011 2018