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: rs767808984
rs767808984
NKX2-1 ; SFTA3 ; NKX2-1-AS1
9 0.851 0.160 14 36520098 missense variant C/G;T snv 1.3E-05 0.010 1.000 1 2012 2012
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.040 1.000 4 2016 2019
dbSNP: rs1042028
rs1042028
SULT1A1
30 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 0.010 1.000 1 2019 2019
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs2073778
rs2073778
DGCR8
1 22 20087052 non coding transcript exon variant C/T snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs557263543
rs557263543
FGFR1
3 8 38412508 3 prime UTR variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs55958994
rs55958994
KRT8
3 0.925 0.080 12 52907235 intron variant C/T snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs587782148
rs587782148
TP53
2 17 7676113 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs9282861
rs9282861
SULT1A1
31 0.658 0.440 16 28606193 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.857 14 2010 2019
dbSNP: rs145204276
rs145204276
GAS5 ; ZBTB37 ; SNORD74 ; SNORD75 ; SNORD76 ; SNORD77 ; SNORA103
31 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs762807774
rs762807774
SDF4
2 1.000 0.040 1 1228495 frameshift variant CGCGGCTCCGC/-;CGCGGCTCCGCCGCGGCTCCGC delins 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2012 2012
dbSNP: rs351855
rs351855
FGFR4
58 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.030 1.000 3 2004 2015
dbSNP: rs11549467
rs11549467
HIF1A ; HIF1A-AS3
30 0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 0.010 1.000 1 2014 2014
dbSNP: rs11672691
rs11672691
PCAT19
3 0.925 0.080 19 41479679 non coding transcript exon variant G/A snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs1285136498
rs1285136498
NR3C1
13 0.807 0.080 5 143400101 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1288373809
rs1288373809
TP53
5 0.882 0.120 17 7673255 synonymous variant G/A snv 5.3E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs720012
rs720012
DGCR8
1 22 20111059 3 prime UTR variant G/A snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 < 0.001 1 2018 2018
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2007 2007
dbSNP: rs375874539
rs375874539
TP53
15 0.732 0.320 17 7674237 missense variant G/A;C snv 0.010 < 0.001 1 2009 2009
dbSNP: rs587782529
rs587782529
TP53
8 0.851 0.200 17 7670700 missense variant G/A;C snv 0.010 1.000 1 1998 1998