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: rs10002268
rs10002268 		1 1.000 0.080 4 55653725 intergenic variant T/C snv 0.41 0.700 1.000 1 2011 2011
dbSNP: rs10052657
rs10052657
PDE4D
7 0.807 0.120 5 59111944 intron variant C/A snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs10058728
rs10058728
CSNK1A1
2 1.000 0.080 5 149524529 intron variant A/T snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs1014867
rs1014867
FAT4
3 0.925 0.080 4 125491736 missense variant C/T snv 4.9E-02 4.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1035142
rs1035142
FLACC1
7 0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs1039808
rs1039808
FAT4
3 0.925 0.080 4 125318831 missense variant C/G;T snv 4.0E-06; 0.41 0.010 1.000 1 2013 2013
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.090 0.889 9 2009 2015
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs1047972
rs1047972
AURKA
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.010 1.000 1 2012 2012
dbSNP: rs10484761
rs10484761 		7 0.807 0.080 6 40834522 intergenic variant T/C snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs104893819
rs104893819
TGFBR2
5 0.827 0.240 3 30688470 stop gained C/G;T snv 0.700 0
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs10509670
rs10509670
PLCE1
5 0.851 0.080 10 94308190 intron variant A/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.060 0.667 6 2011 2015
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.030 0.667 3 2001 2019
dbSNP: rs10786161
rs10786161
NOC3L
1 1.000 0.080 10 94347914 intron variant C/T snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs10821515
rs10821515
SYK
1 1.000 0.080 9 90862614 intron variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs10842750
rs10842750
ITPR2
2 0.925 0.120 12 26537632 intron variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10882424
rs10882424
PLCE1 ; NOC3L
1 1.000 0.080 10 94326321 intron variant T/G snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs10882430
rs10882430
PLCE1 ; NOC3L
1 1.000 0.080 10 94330915 3 prime UTR variant A/G snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs10931936
rs10931936
CASP8
6 0.827 0.120 2 201279205 intron variant T/C snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs11066001
rs11066001
BRAP
15 0.763 0.360 12 111681367 intron variant T/C snv 5.8E-03 0.700 1.000 1 2011 2011