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: rs1043397364
rs1043397364
DPEP1
1 1.000 0.080 16 89637349 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.700 0
dbSNP: rs10434
rs10434
VEGFA
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs1044129
rs1044129
RYR3 ; AVEN
9 0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1044471
rs1044471
ADIPOR2
4 1.000 0.080 12 1787790 3 prime UTR variant C/T snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs1044498
rs1044498
ENPP1
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 1.000 1 2008 2008
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.929 14 2003 2019
dbSNP: rs10457678
rs10457678
ECT2L
10 0.790 0.080 6 138801103 intron variant A/G snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs1047781
rs1047781
FUT2 ; LOC105447645
11 0.790 0.200 19 48703374 missense variant A/T snv 3.6E-02 1.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs1048290
rs1048290
KEAP1
4 0.851 0.160 19 10489766 synonymous variant G/C snv 0.41 0.48 0.010 1.000 1 2019 2019
dbSNP: rs10484879
rs10484879
IL17A
5 0.827 0.160 6 52187159 intron variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.800 1.000 2 2005 2005
dbSNP: rs104893751
rs104893751
OGG1
5 0.882 0.240 3 9750423 missense variant G/A;C snv 2.2E-03; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 < 0.001 1 1999 1999
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.070 1.000 7 2008 2017
dbSNP: rs1048945
rs1048945
APEX1 ; OSGEP
6 0.851 0.120 14 20456008 missense variant G/C snv 2.1E-02 2.4E-02 0.020 1.000 2 2010 2017
dbSNP: rs10490920
rs10490920
PTEN
1 1.000 0.080 10 87925886 intron variant T/C snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs1049434
rs1049434
SLC16A1
2 0.925 0.120 1 112913924 missense variant A/T snv 0.59 0.66 0.010 1.000 1 2015 2015
dbSNP: rs1050152
rs1050152
SLC22A4 ; MIR3936HG
10 0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28 0.010 1.000 1 2017 2017
dbSNP: rs1050171
rs1050171
EGFR ; EGFR-AS1
6 0.851 0.120 7 55181370 missense variant G/A;C snv 0.52; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1050450
rs1050450
GPX1
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2016 2016
dbSNP: rs10504961
rs10504961
UQCRB
1 1.000 0.080 8 96227901 3 prime UTR variant C/T snv 0.41 0.46 0.010 1.000 1 2017 2017
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.890 0.938 16 2007 2019
dbSNP: rs10506868
rs10506868
VTI1A
16 0.716 0.160 10 112559621 intron variant C/T snv 3.1E-02 0.720 1.000 2 2016 2018
dbSNP: rs10511330
rs10511330
ZBTB20
10 0.776 0.080 3 114402172 intron variant T/C snv 0.22 0.700 1.000 1 2018 2018