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: 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: rs11568818
rs11568818
MMP7
15 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 0.720 0.667 3 2013 2018
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: rs138983188
rs138983188
TP53
2 0.925 0.080 17 7674863 missense variant G/A;T snv 4.0E-06 0.030 1.000 3 2013 2016
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: rs1800057
rs1800057
ATM
11 0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02 0.030 0.667 3 2004 2009
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: rs2066827
rs2066827
CDKN1B ; GPR19
21 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 0.030 0.667 3 2004 2019
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: rs3760511
rs3760511
HNF1B
2 0.925 0.080 17 37746322 upstream gene variant G/A;T snv 0.720 1.000 3 2008 2018
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: rs4245739
rs4245739
MDM4
21 0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 0.720 1.000 3 2013 2015
dbSNP: rs445114
rs445114
CASC8 ; PCAT1 ; CASC21
3 0.882 0.160 8 127310936 intron variant T/A;C snv 0.700 1.000 3 2009 2013
dbSNP: rs5945619
rs5945619
LINC01496
3 0.882 0.160 X 51498820 non coding transcript exon variant C/T snv 0.720 1.000 3 2008 2009
dbSNP: rs7130881
rs7130881
LOC105369367
3 0.882 0.160 11 69228491 intergenic variant A/C;G snv 0.700 1.000 3 2009 2013
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 0.830 1.000 3 2002 2010
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