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: rs121913351
rs121913351
BRAF
9 0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 3 2002 2014
dbSNP: rs397516980
rs397516980
ERBB2 ; MIR4728
1 1.000 0.080 17 39724744 protein altering variant G/TTAT delins 0.700 1.000 3 2005 2006
dbSNP: rs397516982
rs397516982
ERBB2 ; MIR4728
1 1.000 0.080 17 39724749 inframe insertion -/GGCTCCCCA delins 0.700 1.000 3 2004 2012
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: rs121913229
rs121913229
EGFR
2 0.925 0.080 7 55174785 missense variant G/C snv 4.0E-06 0.700 1.000 2 2012 2014
dbSNP: rs121913231
rs121913231
EGFR
2 1.000 0.080 7 55174794 missense variant C/T snv 8.0E-06 0.700 1.000 2 2007 2014
dbSNP: rs121913353
rs121913353
BRAF
3 0.925 0.160 7 140781612 missense variant C/G;T snv 0.700 1.000 2 2003 2004
dbSNP: rs121913378
rs121913378
BRAF
11 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.700 1.000 2 2004 2005
dbSNP: rs121913420
rs121913420
EGFR
1 1.000 0.080 7 55174737 missense variant G/A snv 0.700 1.000 2 2010 2014
dbSNP: rs121913430
rs121913430
EGFR
3 1.000 0.080 7 55174740 missense variant G/A snv 0.700 1.000 2 2013 2014
dbSNP: rs121913432
rs121913432
EGFR ; EGFR-AS1
1 1.000 0.080 7 55181327 missense variant A/G snv 0.700 1.000 2 2008 2014
dbSNP: rs121913446
rs121913446
EGFR
2 0.925 0.120 7 55174735 missense variant C/T snv 0.700 1.000 2 2013 2014
dbSNP: rs121913466
rs121913466
EGFR
1 1.000 0.080 7 55174762 missense variant T/C snv 0.700 1.000 2 2009 2014
dbSNP: rs397516976
rs397516976
ERBB2 ; MIR4728
1 1.000 0.080 17 39724733 inframe insertion -/CTCCGTGATGGC delins 0.700 1.000 2 2004 2012
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: rs397517116
rs397517116
EGFR ; EGFR-AS1
1 1.000 0.080 7 55181325 inframe insertion -/CACGTG delins 0.700 1.000 2 2005 2006
dbSNP: rs397517127
rs397517127
EGFR
1 1.000 0.080 7 55191749 missense variant G/C;T snv 0.700 1.000 2 2006 2007
dbSNP: rs778561687
rs778561687
AKT2
4 0.851 0.080 19 40235953 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 2 2012 2014
dbSNP: rs10429489
rs10429489 		2 0.925 0.080 9 21787522 intergenic variant G/A snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs1057519858
rs1057519858
STK11
1 1.000 0.080 19 1220495 missense variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1077424
rs1077424
DAB1
1 1.000 0.080 1 57344632 intron variant G/C snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs11207010
rs11207010
DAB1
1 1.000 0.080 1 57337214 intron variant G/C snv 0.41 0.700 1.000 1 2012 2012
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: rs11674251
rs11674251 		1 1.000 0.080 2 20016748 upstream gene variant T/C snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs1200399
rs1200399
BAZ1A
2 0.925 0.080 14 34823979 intron variant C/T snv 0.87 0.700 1.000 1 2019 2019