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: rs3802842
rs3802842
COLCA2 ; COLCA1
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.030 1.000 3 2011 2013
dbSNP: rs2075786
rs2075786
TERT
8 0.790 0.360 5 1266195 intron variant A/G snv 0.55 0.010 1.000 1 2013 2013
dbSNP: rs4444235
rs4444235 		23 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs1056827
rs1056827
CYP1B1 ; CYP1B1-AS1
24 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 < 0.001 1 2018 2018
dbSNP: rs961253
rs961253 		15 0.732 0.240 20 6423634 intergenic variant C/A snv 0.34 0.010 1.000 1 2012 2012
dbSNP: rs486907
rs486907
RNASEL
32 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 0.010 1.000 1 2007 2007
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2009 2009
dbSNP: rs12947788
rs12947788
TP53
8 0.776 0.280 17 7674109 intron variant G/A snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs16892766
rs16892766 		18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.020 1.000 2 2011 2013
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2008 2008
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs143969848
rs143969848 		4 0.925 0.160 3 36958902 TF binding site variant G/A snv 9.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.020 1.000 2 2005 2017
dbSNP: rs28930073
rs28930073
MLH1
5 0.827 0.200 3 37007004 missense variant G/C snv 2.1E-04 1.9E-04 0.010 1.000 1 2006 2006
dbSNP: rs41295284
rs41295284
MLH1
2 0.925 0.160 3 37047607 missense variant T/A snv 1.9E-04 1.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs202145681
rs202145681
MSH2
1 1.000 0.160 2 47478486 stop gained G/A;T snv 2.7E-04 1.3E-04 0.700 0
dbSNP: rs41295282
rs41295282
MLH1
1 1.000 0.160 3 37001024 missense variant A/G snv 1.6E-05 7.0E-05 0.010 1.000 1 2002 2002
dbSNP: rs376258383
rs376258383
PMS2
1 1.000 0.160 7 5999131 missense variant C/T snv 3.6E-05 4.9E-05 0.010 1.000 1 2002 2002
dbSNP: rs63750250
rs63750250
PMS2
9 0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 0.700 1.000 11 2005 2016
dbSNP: rs267608161
rs267608161
PMS2
6 0.851 0.200 7 5982885 missense variant C/T snv 4.0E-05 2.8E-05 0.700 0
dbSNP: rs587779338
rs587779338
PMS2
7 0.851 0.200 7 5977589 missense variant G/A snv 1.0E-05 2.1E-05 0.700 0
dbSNP: rs63750791
rs63750791
MLH1
2 0.925 0.160 3 37025864 synonymous variant C/T snv 1.8E-04 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs1260021106
rs1260021106
MLH1
2 0.925 0.160 3 37025645 missense variant A/G snv 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs200640585
rs200640585
PMS2
9 0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 0.710 1.000 1 2019 2019
dbSNP: rs63751017
rs63751017
MSH6 ; FBXO11
6 0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05 0.700 1.000 12 2003 2017