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: rs705382
rs705382
PON1
5 0.827 0.200 7 95325909 upstream gene variant C/G snv 0.53 0.010 1.000 1 2015 2015
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2015 2015
dbSNP: rs61886277
rs61886277
PLCE1
1 1.000 0.080 10 94012060 intergenic variant C/T snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs7712322
rs7712322
POLR3G
1 1.000 0.080 5 90482078 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs11556218
rs11556218
IL16
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.010 1.000 1 2011 2011
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2012 2013
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2012 2013
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2012 2013
dbSNP: rs7813
rs7813
GEMIN4
22 0.689 0.360 17 744946 missense variant G/A;C snv 0.63 0.010 1.000 1 2014 2014
dbSNP: rs2296651
rs2296651
SLC10A1
13 0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03 0.060 1.000 6 2015 2018
dbSNP: rs2132039
rs2132039
UGT2B28
2 0.925 0.120 4 69293669 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs11465817
rs11465817
IL23R
4 0.882 0.120 1 67255414 intron variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1884444
rs1884444
IL23R ; C1orf141
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2013 2013
dbSNP: rs12354
rs12354
LTBR
2 0.925 0.080 12 6390939 3 prime UTR variant T/A;G snv 1.6E-04; 0.76 0.010 1.000 1 2017 2017
dbSNP: rs3759333
rs3759333
LTBR
3 0.882 0.120 12 6382781 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs641738
rs641738
MBOAT7 ; TMC4 ; LOC112268246
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.020 0.500 2 2017 2018
dbSNP: rs7095891
rs7095891
MBL2
3 0.882 0.120 10 52771701 upstream gene variant G/A snv 0.30 0.010 < 0.001 1 2013 2013
dbSNP: rs4935047
rs4935047
MBL2
1 1.000 0.080 10 52770307 intron variant A/G snv 0.49 0.010 < 0.001 1 2013 2013
dbSNP: rs6715787
rs6715787
EPAS1
4 0.851 0.200 2 46349033 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs13419896
rs13419896
EPAS1
8 0.776 0.240 2 46329206 intron variant G/A snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.700 1.000 1 2015 2015
dbSNP: rs1010023
rs1010023
PNPLA3
4 0.851 0.080 22 43940218 intron variant T/C snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.030 1.000 3 2013 2015
dbSNP: rs2293152
rs2293152
STAT3
10 0.763 0.480 17 42329511 intron variant G/A;C;T snv 2.8E-05; 0.59; 1.6E-05 0.010 1.000 1 2015 2015