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: rs776746
rs776746
CYP3A5 ; ZSCAN25
21 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 0.010 1.000 1 2015 2015
dbSNP: rs885036
rs885036
MGAT4A
1 1.000 0.080 2 98688331 intron variant A/G snv 0.57 0.700 1.000 1 2015 2015
dbSNP: rs1023741
rs1023741
PIK3AP1
1 1.000 0.080 10 96663139 intron variant T/C snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs1145724
rs1145724 		1 1.000 0.080 6 90477791 intergenic variant T/C snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs17201864
rs17201864
HAPLN3
1 1.000 0.080 15 88877743 3 prime UTR variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs13402783
rs13402783
ATOH8
1 1.000 0.080 2 85787998 3 prime UTR variant A/G snv 8.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs1049550
rs1049550
ANXA11
4 0.882 0.160 10 80166946 missense variant G/A;C snv 0.42; 4.2E-06 0.010 1.000 1 2013 2013
dbSNP: rs12949587
rs12949587
RBFOX3
1 1.000 0.080 17 79365094 intron variant C/T snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs879253942
rs879253942
TP53
28 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs4239258
rs4239258
POLR2A
1 1.000 0.080 17 7493724 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.010 1.000 1 2018 2018
dbSNP: rs2936519
rs2936519 		1 1.000 0.080 8 6781719 non coding transcript exon variant G/A snv 0.20 0.700 1.000 1 2015 2015
dbSNP: rs11692570
rs11692570
MIR7515HG
1 1.000 0.080 2 6637860 non coding transcript exon variant C/T snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs2366964
rs2366964
FHIT
1 1.000 0.080 3 59944946 intron variant A/G snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.100 1.000 14 2011 2019
dbSNP: rs909797662
rs909797662
EGFR
8 0.790 0.120 7 55191837 missense variant G/A snv 0.050 0.800 5 2010 2016
dbSNP: rs2227983
rs2227983
EGFR
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs144460286
rs144460286
EGFR
2 0.925 0.080 7 55155922 missense variant A/C snv 4.0E-06 0.020 1.000 2 2016 2017
dbSNP: rs17082301
rs17082301
SCFD2
1 1.000 0.080 4 53026989 intron variant G/A snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs557806
rs557806
PPP1R15A
2 1.000 0.080 19 48873985 missense variant G/A;C snv 1.2E-05; 0.20 0.010 1.000 1 2016 2016
dbSNP: rs11574077
rs11574077
VDR
1 1.000 0.080 12 47859144 intron variant T/C snv 3.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs9534678
rs9534678 		1 1.000 0.080 13 47544647 intergenic variant G/A snv 1.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs8602
rs8602
MKNK1 ; MKNK1-AS1
1 1.000 0.080 1 46557859 3 prime UTR variant C/A snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs3861289
rs3861289
RIT2
1 1.000 0.080 18 43111710 intron variant C/T snv 9.6E-02 0.700 1.000 1 2019 2019