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: rs7242481
rs7242481
SLC39A6 ; ELP2
2 0.925 0.080 18 36129254 5 prime UTR variant G/A snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs72928038
rs72928038
BACH2
19 0.695 0.360 6 90267049 intron variant G/A snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs7412
rs7412
APOE
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs74664507
rs74664507 		3 1.000 0.040 9 16913838 upstream gene variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs754626
rs754626
SRC
2 0.925 0.080 20 37388937 intron variant T/G snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs75790006
rs75790006 		4 0.851 0.040 4 43211547 intron variant T/G snv 1.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs8063761
rs8063761
DEF8
1 1.000 0.040 16 89961218 intron variant A/T snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs9383064
rs9383064
DTNBP1 ; LOC105374947
1 1.000 0.040 6 15535090 intron variant G/C snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs9557210
rs9557210 		1 1.000 0.040 13 99395250 intergenic variant G/A snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs116150891
rs116150891
CDKN2A
1 1.000 0.040 9 21970929 missense variant G/A;C snv 5.6E-04 2.6E-03 0.700 0
dbSNP: rs121913082
rs121913082
FAS
2 1.000 0.040 10 89014205 missense variant A/G snv 0.700 0
dbSNP: rs121913083
rs121913083
FAS
2 1.000 0.040 10 89008907 missense variant A/G snv 0.700 0
dbSNP: rs121913084
rs121913084
FAS
2 1.000 0.040 10 89010779 missense variant T/C snv 0.700 0
dbSNP: rs201125580
rs201125580
PTCH1 ; LOC100507346
1 1.000 0.040 9 95467191 missense variant C/A;T snv 4.0E-06; 3.8E-04 0.700 0
dbSNP: rs6413464
rs6413464
CDKN2A
2 1.000 0.040 9 21970980 missense variant C/A;G snv 1.3E-03; 4.1E-06 0.700 0
dbSNP: rs779417284
rs779417284
PTCH1
1 1.000 0.040 9 95449149 missense variant C/T snv 2.4E-05 0.700 0
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.090 0.889 9 1999 2018
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.080 0.875 8 1999 2014
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.080 0.875 8 1999 2014
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.050 1.000 5 2012 2017
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.040 1.000 4 2013 2016
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.040 1.000 4 2013 2016
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.040 1.000 4 2013 2016
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.030 0.667 3 2011 2016
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 1.000 3 2002 2015