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: rs10512263
rs10512263
TGFBR1
4 0.851 0.120 9 99123789 intron variant T/C snv 6.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs10733710
rs10733710
TGFBR1
2 0.925 0.080 9 99145142 intron variant G/A snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs6478974
rs6478974
TGFBR1
4 0.851 0.120 9 99112121 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 1.000 1 2015 2015
dbSNP: rs1042028
rs1042028
SULT1A1
30 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 0.010 1.000 1 2008 2008
dbSNP: rs1182154114
rs1182154114
SULT1A1
2 0.925 0.080 16 28623160 missense variant G/C snv 0.010 1.000 1 2008 2008
dbSNP: rs9282861
rs9282861
SULT1A1
31 0.658 0.440 16 28606193 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs4980524
rs4980524
STIP1
3 0.882 0.080 11 64191787 intron variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2297508
rs2297508
SREBF1
8 0.790 0.240 17 17812003 synonymous variant C/G;T snv 0.50; 7.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs6259
rs6259
SHBG
27 0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02 0.020 1.000 2 2007 2008
dbSNP: rs758188449
rs758188449
SHBG
2 0.925 0.080 17 7632936 missense variant G/A;T snv 6.8E-05; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1799889
rs1799889
SERPINE1
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs3219175
rs3219175
RETN
10 0.807 0.240 19 7668969 upstream gene variant G/A snv 5.0E-02 0.010 1.000 1 2011 2011
dbSNP: rs1801320
rs1801320
RAD51 ; RAD51-AS1
15 0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12 0.010 1.000 1 2014 2014
dbSNP: rs1801321
rs1801321
RAD51 ; RAD51-AS1
8 0.790 0.160 15 40695367 5 prime UTR variant G/C;T snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs2475335
rs2475335
PTPRD
3 0.882 0.080 9 10260263 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs5275
rs5275
PTGS2
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs786205228
rs786205228
PPP2R1A
6 0.827 0.080 19 52212718 missense variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2004 2004
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2004 2004
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 < 0.001 1 2018 2018
dbSNP: rs483352909
rs483352909
POLE
11 0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs397514632
rs397514632
POLD1
5 0.827 0.160 19 50406456 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs587780062
rs587780062
PMS2
8 0.827 0.240 7 5995614 stop gained G/A;C snv 8.0E-06; 8.0E-05 0.010 1.000 1 2016 2016