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: rs5945619
rs5945619
LINC01496
3 0.882 0.160 X 51498820 non coding transcript exon variant C/T snv 0.720 1.000 4 2008 2018
dbSNP: rs7127900
rs7127900 		3 0.882 0.160 11 2212344 intergenic variant A/C;G snv 0.710 1.000 4 2009 2018
dbSNP: rs10187424
rs10187424
VAMP8
2 0.925 0.080 2 85567174 intron variant T/A;C snv 0.700 1.000 3 2011 2018
dbSNP: rs10875943
rs10875943 		2 0.925 0.080 12 49282227 intergenic variant T/A;C snv 0.700 1.000 3 2011 2018
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.030 1.000 3 2014 2016
dbSNP: rs11986220
rs11986220 		2 0.925 0.080 8 127519444 intergenic variant A/G;T snv 0.720 1.000 3 2009 2015
dbSNP: rs13254738
rs13254738
PCAT1 ; PRNCR1 ; CASC19
8 0.807 0.160 8 127092098 non coding transcript exon variant C/A;T snv 0.720 0.667 3 2008 2012
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.030 1.000 3 2000 2006
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.030 1.000 3 2004 2008
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.030 0.667 3 2007 2014
dbSNP: rs1801278
rs1801278
IRS1
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.030 1.000 3 2005 2011
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.030 0.667 3 2003 2015
dbSNP: rs188140481
rs188140481
PCAT1 ; CASC19
4 0.925 0.080 8 127179427 non coding transcript exon variant T/A;C snv 0.720 1.000 3 2012 2015
dbSNP: rs2229388
rs2229388
MSR1
7 0.807 0.120 8 16155139 missense variant G/A;C snv 4.0E-06; 0.11 0.030 1.000 3 2006 2015
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.030 1.000 3 2007 2015
dbSNP: rs3803185
rs3803185
ARL11
19 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 0.030 1.000 3 2008 2013
dbSNP: rs5945572
rs5945572 		3 0.882 0.160 X 51486831 downstream gene variant A/G snv 0.730 1.000 3 2008 2010
dbSNP: rs72552387
rs72552387
MSR1
3 0.882 0.080 8 16168568 missense variant C/A;G;T snv 1.6E-03; 4.0E-06 0.030 1.000 3 2003 2006
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.030 1.000 3 2004 2012
dbSNP: rs780354238
rs780354238
POLB
4 0.925 0.080 8 42369855 missense variant A/G snv 4.4E-06 0.030 1.000 3 2005 2017
dbSNP: rs7965399
rs7965399
LOC105369944
5 0.851 0.120 12 102497908 regulatory region variant T/A;C snv 0.030 1.000 3 2006 2015
dbSNP: rs864622007
rs864622007
AR
5 0.882 0.200 X 67711621 missense variant T/A snv 0.030 1.000 3 2002 2010
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.020 1.000 2 2010 2014
dbSNP: rs1047303
rs1047303
HSD3B1
4 0.851 0.120 1 119514623 missense variant C/A snv 0.75 0.020 1.000 2 2002 2007
dbSNP: rs1057519864
rs1057519864
AR
8 0.851 0.080 X 67723707 missense variant T/C snv 0.020 1.000 2 2013 2015