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: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.040 1.000 4 1999 2007
dbSNP: rs386352318
rs386352318
KCNJ5
4 0.925 0.080 11 128911776 missense variant T/G snv 0.020 1.000 2 2012 2012
dbSNP: rs142287570
rs142287570
GCM2
2 1.000 6 10874335 missense variant T/G snv 6.6E-04 4.9E-04 0.010 1.000 1 2019 2019
dbSNP: rs17503908
rs17503908
ATM ; C11orf65
2 1.000 0.080 11 108344670 intron variant T/G snv 6.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2008 2008
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2011 2011
dbSNP: rs121913228
rs121913228
CTNNB1
14 0.742 0.200 3 41224621 missense variant T/C;G snv 0.010 1.000 1 2008 2008
dbSNP: rs146462069
rs146462069
IGSF1
2 X 131278706 missense variant T/C;G snv 3.8E-05; 9.5E-03 0.010 < 0.001 1 2015 2015
dbSNP: rs4648310
rs4648310
PTGS2
1 1 186671393 downstream gene variant T/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs770460061
rs770460061
GSTP1
14 0.742 0.240 11 67585239 missense variant T/C;G snv 4.0E-06; 1.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs34612342
rs34612342
MUTYH
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.030 1.000 3 2010 2015
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.020 1.000 2 2007 2011
dbSNP: rs121908874
rs121908874
TSHR ; LOC101928462
7 0.807 0.080 14 81143584 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs142163070
rs142163070
CYP11B1 ; GML
1 8 142877100 missense variant T/C snv 2.0E-04 4.5E-04 0.010 1.000 1 2005 2005
dbSNP: rs2959656
rs2959656
MEN1 ; MAP4K2
5 0.851 0.160 11 64804546 missense variant T/C snv 0.94 0.90 0.010 1.000 1 2016 2016
dbSNP: rs4539
rs4539
CYP11B2 ; GML
4 0.925 0.080 8 142915123 missense variant T/C snv 0.42 0.38 0.010 1.000 1 2005 2005
dbSNP: rs4925386
rs4925386
LAMA5
14 0.776 0.080 20 62345988 intron variant T/C snv 0.56 0.010 < 0.001 1 2013 2013
dbSNP: rs774679649
rs774679649
CRP
1 1 159713878 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1060503115
rs1060503115
PMS2
13 0.763 0.400 7 5978664 missense variant T/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs17817449
rs17817449
FTO
21 0.716 0.560 16 53779455 intron variant T/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs459552
rs459552
APC
14 0.752 0.320 5 112841059 missense variant T/A;G snv 0.79 0.010 1.000 1 2010 2010
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 0.050 1.000 5 1999 2014
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.020 1.000 2 2011 2012
dbSNP: rs11255841
rs11255841 		11 0.776 0.080 10 8697617 intergenic variant T/A snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2006 2006