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: 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: rs7525160
rs7525160
CR1
1 1.000 0.080 1 207495069 upstream gene variant G/C snv 0.29 0.020 1.000 2 2014 2019
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: rs7897947
rs7897947
NFKB2
1 1.000 0.080 10 102397954 intron variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.23 0.020 1.000 2 2018 2019
dbSNP: rs967591
rs967591
PPP1R13L ; CD3EAP
4 0.851 0.080 19 45406676 5 prime UTR variant G/A;C;T snv 0.22; 6.7E-06 0.020 1.000 2 2013 2017
dbSNP: rs1001581
rs1001581
XRCC1
1 1.000 0.080 19 43561236 intron variant C/T snv 0.38 0.010 1.000 1 2010 2010
dbSNP: rs10023113
rs10023113
CAMK2D
1 1.000 0.080 4 113625548 intron variant A/G snv 0.18 0.710 1.000 1 2015 2015
dbSNP: rs1005165
rs1005165
PPP1R13L ; CD3EAP
1 1.000 0.080 19 45405792 intron variant C/T snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs1026411
rs1026411
PCAT1 ; LOC105375751
5 0.827 0.080 8 127014165 intron variant G/A;C snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs1032737355
rs1032737355
EGFR
2 0.925 0.080 7 55170434 missense variant T/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1042852
rs1042852
CBLB
1 1.000 0.080 3 105658671 3 prime UTR variant C/G;T snv 0.010 1.000 1 2016 2016
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: rs1046175
rs1046175
PAOX
4 0.851 0.080 10 133391446 stop gained C/A;G;T snv 1.2E-05; 0.88 0.010 1.000 1 2019 2019
dbSNP: rs1048977
rs1048977
CDA
2 1.000 0.080 1 20618562 synonymous variant C/T snv 0.31 0.34 0.010 1.000 1 2011 2011
dbSNP: rs10503380
rs10503380 		2 1.000 0.080 8 9552985 upstream gene variant C/T snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs1057519858
rs1057519858
STK11
1 1.000 0.080 19 1220495 missense variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1059292
rs1059292
SLC3A2 ; SNORD29 ; SNORD30 ; SNORD28 ; SNORD27 ; SNORD26 ; SNORD25 ; SNHG1
1 1.000 0.080 11 62855579 non coding transcript exon variant T/C snv 7.2E-02 9.0E-02 0.010 1.000 1 2015 2015
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: rs10845498
rs10845498
LRP6
2 0.925 0.080 12 12241640 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs10878232
rs10878232 		1 1.000 0.080 12 65128867 intergenic variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs10937405
rs10937405
TP63
9 0.807 0.080 3 189665394 intron variant C/T snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs10981694
rs10981694
SLC31A1 ; LOC107987119
1 1.000 0.080 9 113224129 intron variant T/G snv 8.7E-02 0.010 1.000 1 2012 2012