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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2019 2019
dbSNP: rs34917480
rs34917480
RTN4 ; EML6
3 0.925 0.160 2 54972426 3 prime UTR variant -/TTA ins 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2019 2019
dbSNP: rs3830738
rs3830738
TNRC6B
2 1.000 22 40315223 intron variant -/T delins 0.22 0.700 1.000 1 2019 2019
dbSNP: rs745398820
rs745398820
LNX1
2 1.000 4 53466157 intron variant AAAAA/-;AAA;AAAA;AAAAAA delins 1.1E-03 0.700 1.000 1 2018 2018
dbSNP: rs780590302
rs780590302 		2 1.000 4 44530629 upstream gene variant T/- delins 3.5E-05 0.700 1.000 1 2018 2018
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.050 0.800 5 2007 2017
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.040 1.000 4 2008 2016
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.040 1.000 4 2011 2017
dbSNP: rs2280543
rs2280543
BET1L
3 0.925 0.080 11 203788 3 prime UTR variant C/T snv 4.7E-02 0.830 1.000 4 2011 2018
dbSNP: rs12484776
rs12484776
TNRC6B
2 1.000 22 40256869 intron variant A/G snv 0.19 0.820 1.000 3 2011 2018
dbSNP: rs58415480
rs58415480
SYNE1
2 1.000 6 152241136 intron variant C/G;T snv 0.700 1.000 3 2018 2019
dbSNP: rs78378222
rs78378222
TP53
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.700 1.000 3 2018 2019
dbSNP: rs10917151
rs10917151
CDC42
3 0.925 0.040 1 22096228 3 prime UTR variant G/A snv 0.14 0.700 1.000 2 2018 2019
dbSNP: rs117245733
rs117245733
LINC00598
2 1.000 13 40149807 intron variant G/A snv 1.3E-02 0.700 1.000 2 2018 2019
dbSNP: rs149934734
rs149934734
C11orf65
2 1.000 11 108444879 intron variant C/T snv 1.6E-02 0.700 1.000 2 2018 2019
dbSNP: rs16991615
rs16991615
MCM8
6 0.925 0.080 20 5967581 missense variant G/A snv 4.5E-02 4.2E-02 0.700 1.000 2 2018 2019
dbSNP: rs4247357
rs4247357
CCDC57
1 17 82209113 intron variant G/T snv 0.46 0.710 1.000 2 2012 2016
dbSNP: rs605059
rs605059
HSD17B1 ; LOC108783654
15 0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05 0.020 1.000 2 2012 2015
dbSNP: rs7907606
rs7907606 		8 0.790 0.120 10 103920874 upstream gene variant T/G snv 0.26 0.700 1.000 2 2018 2019
dbSNP: rs7913069
rs7913069
LOC102724351
2 1.000 10 103954641 intergenic variant C/T snv 7.0E-02 0.810 1.000 2 2011 2017
dbSNP: rs7986407
rs7986407
FOXO1
4 0.882 0.120 13 40605661 intron variant A/G snv 0.38 0.700 1.000 2 2018 2019
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2019 2019
dbSNP: rs10508765
rs10508765 		2 1.000 10 31679855 intergenic variant A/G snv 0.20 0.700 1.000 1 2019 2019