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: rs1566734
rs1566734
PTPRJ
7 0.801 0.107 11 48123823 missense variant A/C snp 0.17 0.14 0.700 2 2002 2004
dbSNP: rs119490107
rs119490107
RAD54B
2 0.923 0.071 8 94399540 missense variant C/A snp 2.8E-05 0.700 1 1999 1999
dbSNP: rs121434507
rs121434507
PTPRJ
2 0.923 0.071 11 48123636 missense variant C/T snp 4.0E-05 3.2E-05 0.700 1 2002 2002
dbSNP: rs121434623
rs121434623
PTPN12
2 0.923 0.071 7 77571160 missense variant A/G snp 0.700 1 1994 1994
dbSNP: rs28936407
rs28936407
PPARG
2 0.923 0.071 3 12416831 missense variant G/A snp 8.0E-06 0.700 1 1999 1999
dbSNP: rs1114167435
rs1114167435
MLH1
1 1.000 0.071 3 37025934 frameshift variant GAG/G in-del 0.700 0
dbSNP: rs121913341
rs121913341
BRAF
5 0.846 0.250 7 140753350 missense variant A/C,T snp 0.700 0
dbSNP: rs121913355
rs121913355
BRAF
17 0.699 0.393 7 140781602 stop lost C/A,G,T snp 4.0E-06 0.700 0
dbSNP: rs137853007
rs137853007
CHEK2
5 0.846 0.179 22 28725254 missense variant G/A,T snp 5.2E-05 3.2E-05 0.700 0
dbSNP: rs113488022
rs113488022
BRAF
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.100 0.964 28 2005 2018
dbSNP: rs1801155
rs1801155
APC
31 0.657 0.393 5 112839514 missense variant T/A snp 2.0E-03; 8.0E-06 6.4E-04 0.070 0.714 7 1998 2004
dbSNP: rs397507444
rs397507444
MTHFR
169 0.457 0.714 1 11794407 missense variant T/G snp 0.050 0.800 5 2004 2014
dbSNP: rs121913529
rs121913529
KRAS
70 0.559 0.393 12 25245350 missense variant C/A,G,T snp 4.0E-06 0.040 1.000 4 2006 2016
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
77 0.533 0.643 3 9757089 missense variant C/G snp 0.27 0.22 0.030 0.333 3 2003 2012
dbSNP: rs112445441
rs112445441
KRAS
17 0.699 0.286 12 25245347 missense variant snp 0.030 1.000 3 2006 2014
dbSNP: rs6983267
rs6983267
CASC8 ; CCAT2
24 0.667 0.214 8 127401060 non coding transcript exon variant G/T snp 0.38 0.030 0.667 3 2009 2012
dbSNP: rs7903146
rs7903146
TCF7L2
59 0.596 0.536 10 112998590 intron variant C/G,T snp 0.26 0.030 1.000 3 2008 2014
dbSNP: rs1042821
rs1042821
MSH6
11 0.756 0.214 2 47783349 missense variant G/A,C snp 0.18; 8.6E-06 0.19 0.020 1.000 2 2009 2009
dbSNP: rs1045642
rs1045642
ABCB1
108 0.520 0.714 7 87509329 synonymous variant A/G,T snp 0.50 0.56 0.020 0.500 2 2006 2008
dbSNP: rs1801282
rs1801282
PPARG
77 0.543 0.679 3 12351626 missense variant C/G snp 0.11 1.0E-01 0.020 0.500 2 2006 2010
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
60 0.577 0.643 5 7870860 missense variant A/G snp 0.47 0.46 0.020 1.000 2 2011 2013
dbSNP: rs1805192
rs1805192
PPARG
75 0.545 0.679 3 12379739 missense variant C/G snp 0.020 0.500 2 2006 2010
dbSNP: rs4464148
rs4464148
SMAD7
6 0.801 0.107 18 48932662 intron variant T/C snp 0.24 0.020 1.000 2 2009 2010
dbSNP: rs4939827
rs4939827
SMAD7
12 0.769 0.107 18 48927093 intron variant T/A,C snp 0.56 0.020 0.500 2 2010 2017
dbSNP: rs4986790
rs4986790
TLR4
146 0.465 0.750 9 117713024 missense variant A/G,T snp 6.1E-02; 4.0E-06 6.7E-02 0.020 0.500 2 2012 2016