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: rs1884444
rs1884444
IL23R ; C1orf141
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.020 1.000 2 2012 2019
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 0.020 1.000 2 2014 2014
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.020 1.000 2 2012 2013
dbSNP: rs353163
rs353163
TMPRSS11A ; UBA6-AS1
4 0.882 0.080 4 67919056 missense variant T/A;C;G snv 0.67 0.020 1.000 2 2006 2013
dbSNP: rs3765524
rs3765524
PLCE1
17 0.724 0.320 10 94298541 missense variant C/T snv 0.27 0.31 0.020 1.000 2 2014 2019
dbSNP: rs3787016
rs3787016
POLR2E
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.020 1.000 2 2015 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2013 2013
dbSNP: rs4646903
rs4646903
CYP1A1
36 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 0.020 1.000 2 2014 2019
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2013 2018
dbSNP: rs6682925
rs6682925
IL23R ; C1orf141
11 0.776 0.160 1 67165579 intron variant C/T snv 0.47 0.020 1.000 2 2012 2019
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: 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: 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: rs10786161
rs10786161
NOC3L
1 1.000 0.080 10 94347914 intron variant C/T snv 0.31 0.700 1.000 1 2011 2011